915:
238:, usually those involved in making muscle proteins. The muscle protein, dystrophin, is in most muscle cells and works to strengthen the muscle fibers and protect them from injury as muscles contract and relax. It links the muscle membrane to the thin muscular filaments within the cell. Dystrophin is an integral part of the muscular structure. An absence of dystrophin can cause impairments: healthy muscle tissue can be replaced by fibrous tissue and fat, causing an inability to generate force. Respiratory and cardiac complications can occur as well. These mutations are either
2866:
32:
2525:
380:
966:
Occupational therapy may implement changes to a person's environment, both at home or work, to increase the individual's function and accessibility; furthermore, it addresses psychosocial changes and cognitive decline which may accompany MD, and provides support and education about the disease to the family and individual.
974:
Prognosis depends on the individual form of muscular dystrophy. Some dystrophies cause progressive weakness and loss of muscle function, which may result in severe physical disability and a life-threatening deterioration of respiratory muscles or heart. Other dystrophies do not affect life expectancy
961:
Low-intensity, assisted exercises, dynamic exercise training, or assisted bicycle training of the arms and legs during a 24-week trial significantly delayed the functional loss of muscular dystrophy. It can be done in a safe and feasible manner, even with boys late in their ambulation stage. However,
662:
The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting. Clinical symptoms become evident when the child begins walking. By age 10, the child may need braces and by age 12, most patients
617:
Several forms of the congenital muscular dystrophies are caused by defects in proteins thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital muscular dystrophy show severe
965:
Occupational therapy assists the individual with MD to engage in activities of daily living (such as self-feeding and self-care activities) and leisure activities at the most independent level possible. This may be achieved with use of adaptive equipment or the use of energy-conservation techniques.
782:
Causes progressive weakness, initially in the muscles of the face, shoulders, and upper arms. Additional muscles are often affected. Affected individuals can become severely disabled, with 20% requiring a wheelchair by age 50. 30% of cases involve spontaneous mutations. Penetrance and severity seem
1014:, significant in raising awareness of muscular dystrophy in North America. Disability rights advocates, however, have criticized the telethon for portraying those living with the disease as deserving pity rather than respect.
1338:
El-Sobky, Tamer A.; Abdulhady, Hala; Mahmoud, Shady; Amen, John (31 January 2024). "Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review".
865:(delayed relaxation of muscles), as well as muscle wasting and weakness. Varies in severity and manifestations and affects many body systems in addition to skeletal muscles, including the heart, endocrine organs, and eyes.
504:
An MRI can be used to assess the white matter of the nervous system and measure the merosin levels in young boys. An absence of merosin in young boys will result with neurological deficits and changes in the white matter.
2597:
2582:
2567:
983:
In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist
746:
Symptoms include muscle weakness and wasting, starting in the distal limb muscles and progressing to involve the limbâgirdle muscles. Most patients also have cardiac conduction defects and arrhythmias.
356:
Outcomes depend on the specific type of disorder. Many affected people will eventually become unable to walk and
Duchenne muscular dystrophy in particular is associated with shortened life expectancy.
196:
over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other
501:. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.
2230:
Jansen, Merel; Van Alfen, Nens; Geurts, Alexander C. H.; De Groot, Imelda J. M. (2013). "Assisted
Bicycle Training Delays Functional Deterioration in Boys with Duchenne Muscular Dystrophy".
2902:
950:
may be needed to improve the quality of life in some cases. The cardiac problems that occur with EmeryâDreifuss muscular dystrophy (EDMD) and myotonic muscular dystrophy may require a
1366:
Birnkrant, DJ; Bushby, K; Bann, CM; Alman, BA; Apkon, SD; Blackwell, A; Case, LE; Cripe, L; Hadjiyannakis, S; Olson, AK; Sheehan, DW; Bolen, J; Weber, DR; Ward, LM (April 2018).
704:
Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of
3375:
2064:
1521:
2895:
2344:
2339:
3511:
610:
Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to
408:
3346:
1605:
273:
There is no cure for any disorder from the muscular dystrophy group. Several drugs designed to address the root cause are currently available including
2888:
207:(DMD) accounts for approximately 50% of cases and affects males beginning around the age of four. Other relatively common muscular dystrophies include
1814:
958:(delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine.
1785:
1475:
2413:
1686:
3370:
2690:
1178:
2273:
Lehman, R. M.; McCormack, G. L. (2001). "Neurogenic and
Myopathic Dysfunction". In Pedretti, Lorraine Williams; Early, Mary Beth (eds.).
1897:
1026:
2394:
3400:
1995:
Bird, T. D.; Adam, M. P.; Everman, D. B.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A. (1993).
2094:
1368:"Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management"
3059:
3016:
2822:
2745:
1039:
1010:
753:
608:
Symptoms include general muscle weakness and possible joint deformities. Disease progresses slowly, and lifespan is shortened.
212:
94:
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2740:
2282:
2214:
1724:
1657:
1225:
715:
1927:
1113:
988:
gave a comprehensive account of the most common and severe form of the disease, which now carries his name â Duchenne MD.
816:
The person normally leads a normal life with some assistance. Rare cardiopulmonary complications can be life-threatening.
2056:
2012:
1513:
2880:
3157:
3011:
2767:
2750:
1415:
BÄdilÄ, E; Lungu, II; Grumezescu, AM; Scafa UdriČte, A; Rosenthal, David; Duboc, Denis; Melacini, Paola (12 May 2021).
914:
871:
789:
705:
220:
98:
1544:
1284:
2300:"Molecular Diagnosis of Duchenne Muscular Dystrophy: Past, Present and Future in Relation to Implementing Therapies"
2683:
3273:
893:
805:
735:
691:
597:
962:
eccentric exercises, or intense exercises causing soreness should not be used as they can cause further damage.
3341:
3261:
3096:
3049:
3006:
2964:
2932:
2928:
2783:
2723:
2368:
1496:
Griffiths, Anthony JF; Miller, Jeffrey H.; Suzuki, David T.; Lewontin, Richard C.; Gelbart, William M. (2000).
1054:
1001:
889:
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801:
771:
731:
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687:
651:
593:
560:
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2794:
2713:
2207:
Caring for
Children with Special Healthcare Needs and Their Families: A Handbook for Healthcare Professionals
1617:
663:
are unable to walk. Typical lifespans range from 15 to 45. Sporadic mutations in this gene occur frequently.
581:
322:
224:
2540:
3149:
3143:
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278:
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3101:
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204:
86:
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669:
542:
208:
90:
2039:
1467:
3336:
2616:
306:
2410:
1678:
3448:
934:), speech therapy, and respiratory therapy may be helpful. Low intensity corticosteroids such as
838:
53:
1186:
3351:
3244:
3163:
2916:
490:
2645:
2576:
1889:
3476:
2920:
2156:
Verhaert, David; Richards, Kathryn; Rafael-Fortney, Jill A.; Raman, Subha V. (January 2011).
2117:"The Canadian experience with long term deflazacort treatment in Duchenne muscular dystrophy"
1049:
189:
3289:
951:
927:
471:
346:
163:
2391:
1629:
1318:
614:, or muscle degeneration may be paired with effects on the brain and other organ systems.
8:
3481:
3458:
3430:
3418:
3036:
2910:
2601:
2473:
Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (December 2011).
931:
463:
255:
247:
120:
2530:
1025:
to provide research for the various muscular dystrophies. This law also established the
39:
In affected muscle (right), the tissue has become disorganized and the concentration of
3425:
3327:
3253:
3215:
3081:
3021:
2998:
2762:
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2499:
2474:
2456:
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2316:
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2182:
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2133:
2116:
2027:
1977:
1866:
1841:
1716:
1580:
1443:
1416:
1392:
1367:
1295:
1236:
1044:
985:
947:
467:
259:
251:
216:
124:
116:
102:
60:
2610:
2606:
1560:
1383:
3405:
3386:
3177:
2947:
2799:
2504:
2461:
2401:: MD-CARE Act, GovTrack.us (database of federal legislation), (accessed Jul 29, 2007)
2321:
2298:
Laing, Nigel G; Davis, Mark R; Bayley, Klair; Fletcher, Sue; Wilton, Steve D (2011).
2278:
2247:
2210:
2187:
2138:
2004:
1969:
1944:
1923:
1871:
1730:
1720:
1572:
1564:
1448:
1397:
1300:
1280:
1241:
1221:
350:
282:
132:
48:
1584:
3435:
3135:
3129:
2718:
2494:
2486:
2451:
2440:"Drug treatment of Duchenne musculardystrophy: available evidence and perspectives"
2311:
2259:
2239:
2177:
2173:
2169:
2128:
2086:
1981:
1959:
1861:
1853:
1712:
1556:
1438:
1428:
1387:
1379:
1348:
1290:
1272:
1231:
1213:
923:
494:
338:
334:
243:
193:
155:
151:
66:
2115:
McAdam, Laura C.; Mayo, Amanda L.; Alman, Benjamin A.; Biggar, W. Douglas (2012).
1649:
3237:
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2621:
2417:
2398:
1857:
1609:
611:
498:
427:
314:
267:
147:
137:
2834:
659:
Distal limbs progressing to generalised weakness, involving respiratory muscles
3360:
3355:
3313:
3225:
2490:
1497:
1121:
442:
294:
227:
are themselves groups of several â usually extremely rare â genetic disorders.
2591:
1996:
1749:"OMIM Entry - # 310300 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1"
203:
Over 30 different disorders are classified as muscular dystrophies. Of those,
3500:
3232:
3194:
3044:
2957:
2755:
2243:
1964:
1568:
1433:
623:
619:
486:
470:). In a small percentage of patients, the disorder may have been caused by a
422:
414:
2828:
922:
Currently, there is no cure for muscular dystrophy. In terms of management,
3412:
3171:
2508:
2465:
2325:
2251:
2191:
2142:
2008:
1973:
1875:
1734:
1576:
1452:
1401:
1352:
1304:
1261:"The Dystrophin Complex: Structure, Function, and Implications for Therapy"
1245:
384:
360:
274:
197:
1890:"Facioscapulohumeral muscular dystrophy: MedlinePlus Medical Encyclopedia"
1260:
458:; the different muscular dystrophies follow various inheritance patterns (
3394:
2640:
1679:"Duchenne Muscular Dystrophy. What is muscular dystrophy? | Patient"
1613:
1276:
1217:
1018:
997:
939:
436:
330:
298:
263:
2559:
3182:
3090:
2941:
2851:
935:
645:
554:
326:
302:
290:
40:
2438:
De Los
Angeles BeytĂa, Maria; Vry, Julia; Kirschner, Janbernd (2012).
2668:
2651:
1634:
1323:
1029:
to help focus research efforts through a coherent research strategy.
1005:
681:
402:
310:
170:
31:
3208:
2974:
2155:
1756:
955:
943:
862:
459:
455:
286:
239:
231:
112:
1807:"facioscapulohumeral muscular dystrophy - Genetics Home Reference"
1414:
2472:
2437:
379:
342:
318:
159:
1644:
1642:
1208:
Gao, Q. Q.; McNally, E. M. (2011-01-17). Terjung, Ronald (ed.).
877:
832:
828:
759:
675:
639:
548:
3317:
2912:
2586:
2571:
1650:"Duchenne muscular dystrophy: MedlinePlus Medical Encyclopedia"
883:
485:
The diagnosis of muscular dystrophy is based on the results of
188:) are a genetically and clinically heterogeneous group of rare
2275:
Occupational
Therapy: Practice Skills for Physical Dysfunction
391:
The signs and symptoms consistent with muscular dystrophy are:
2229:
1852:(6, Muscle and Neuromuscular Junction Disorders): 1916â1931.
1778:"Emery-Dreifuss muscular dystrophy - Genetics Home Reference"
1639:
1495:
43:(green) is greatly reduced, compared to normal muscle (left).
1417:"Diagnosis of Cardiac Abnormalities in Muscular Dystrophies"
1337:
2158:"Cardiac Involvement in Patients With Muscular Dystrophies"
1835:
1833:
1831:
1616:, as submitted by Department of Health and Human Service's
844:
765:
519:
235:
1598:
1596:
1594:
779:
Face, shoulders, upper arms, progressing to other muscles
2421:
2001:
Myotonic
Dystrophy Type 1 - GeneReviewsÂŽ - NCBI Bookshelf
1922:. Brentwood, Essex: Multi-Science Publ. Co. p. 121.
2297:
1828:
1365:
946:(orthopedic appliances used for support) and corrective
2345:
National
Institute of Neurological Disorders and Stroke
1591:
1212:. Vol. 5 (1 ed.). Wiley. pp. 1223â1239.
359:
Muscular dystrophy was first described in the 1830s by
16:
Diseases in which skeletal muscle breaks down over time
2369:"The End of the Jerry Lewis TelethonâIt's About Time"
2114:
1994:
313:); to slow skeletal and cardiac muscle degeneration,
2549:
1945:"The myotonic dystrophies: diagnosis and management"
1952:
Journal of
Neurology, Neurosurgery & Psychiatry
1707:Udd, Bjarne (2011). "Distal muscular dystrophies".
433:
Calf deformation as in
Duchenne muscular dystrophy.
1942:
1259:Gao, Quan Q.; McNally, Elizabeth M. (2015-06-24).
2475:"Congenital Muscular Dystrophies: A Brief Review"
2057:"What are the treatments for muscular dystrophy?"
699:Distal muscles in hands, forearms and lower legs
568:Distal limbs progressing to generalised weakness
192:that cause progressive weakness and breakdown of
3498:
2272:
1341:Journal of Musculoskeletal Surgery and Research
3512:Myoneural junction and neuromuscular diseases
2896:
2684:
1839:
1333:
1331:
1021:was signed into law in the US; it amends the
901:Eye muscles, face, throat, pelvis, shoulders
858:Skeletal muscles, heart, other muscle groups
411:leads to limited range of movement of joints.
405:(abnormal curvature of the spine or the back)
1173:
1171:
1169:
1167:
1165:
1163:
1161:
1159:
363:. The word "dystrophy" comes from the Greek
2340:"Muscular Dystrophy: Hope Through Research"
1514:"NIH /How is muscular dystrophy diagnosed?"
1468:"Muscular dystrophy - Causes - NHS Choices"
1179:"Muscular Dystrophy: Hope Through Research"
1157:
1155:
1153:
1151:
1149:
1147:
1145:
1143:
1141:
1139:
1114:"NINDS Muscular Dystrophy Information Page"
975:and only cause relatively mild impairment.
702:Progress is slow and not life-threatening.
2903:
2889:
2691:
2677:
1328:
1258:
1207:
1108:
1106:
1104:
1102:
783:to be lower in females compared to males.
349:may be required in those with weakness of
30:
2498:
2455:
2315:
2181:
2132:
1963:
1865:
1442:
1432:
1391:
1294:
1235:
1100:
1098:
1096:
1094:
1092:
1090:
1088:
1086:
1084:
1082:
1027:Muscular Dystrophy Coordinating Committee
454:The majority of muscular dystrophies are
2404:
2385:
1842:"Facioscapulohumeral Muscular Dystrophy"
1840:Statland, JM; Tawil, R (December 2016).
1319:Muscular Dystrophy Clinical Presentation
1136:
913:
743:Distal limb muscles, limb-girdle, heart
378:
2277:(5th ed.). Mosby. pp. 802â3.
2051:
2049:
1917:
3499:
2698:
2366:
1936:
1630:Congenital Muscular Dystrophy~clinical
1079:
1040:Fukuyama congenital muscular dystrophy
991:
754:Facioscapulohumeral muscular dystrophy
293:etc.). Other medications used include
213:facioscapulohumeral muscular dystrophy
95:facioscapulohumeral muscular dystrophy
2884:
2672:
2232:Neurorehabilitation and Neural Repair
2087:"Muscular Dystrophy-OrthoInfo - AAOS"
2003:. University of Washington, Seattle.
1943:Turner, C.; Hilton-Jones, D. (2010).
1542:
374:
2777:National/International Organizations
2204:
2046:
2162:Circulation: Cardiovascular Imaging
1706:
1465:
230:Muscular dystrophies are caused by
65:Increasing weakening, breakdown of
13:
3164:BIN1-linked centronuclear myopathy
2431:
1717:10.1016/B978-0-08-045031-5.00016-5
1711:. Vol. 101. pp. 239â62.
942:may help to maintain muscle tone.
872:Oculopharyngeal muscular dystrophy
430:as in Duchenne muscular dystrophy.
345:may help with some symptoms while
175:Depends on the particular disorder
14:
3523:
3445:Testosterone deficiency myopathy
2953:LambertâEaton myasthenic syndrome
2516:
2067:from the original on 7 April 2016
1524:from the original on 7 April 2016
716:EmeryâDreifuss muscular dystrophy
508:
3401:KocherâDebreâSemelaigne syndrome
3050:Limb-girdle muscular dystrophy 2
3007:Limb-girdle muscular dystrophy 1
2865:
2864:
2523:
387:indicative of muscular dystrophy
2479:Seminars in Pediatric Neurology
2392:H.R. 717--107th Congress (2001)
2360:
2332:
2304:The Clinical Biochemist Reviews
2291:
2266:
2223:
2198:
2149:
2108:
2097:from the original on 2016-04-12
2079:
2015:from the original on 2017-01-18
1988:
1911:
1900:from the original on 2016-07-04
1882:
1817:from the original on 2017-03-24
1799:
1788:from the original on 2017-03-12
1770:
1741:
1700:
1689:from the original on 2016-12-02
1671:
1660:from the original on 2017-04-05
1622:
1536:
1506:
1489:
1478:from the original on 2016-04-02
1185:. March 4, 2016. Archived from
1120:. March 4, 2016. Archived from
930:, orthotic intervention (e.g.,
740:Childhood, early teenage years
3342:Fatty-acid metabolism disorder
2965:Congenital myasthenic syndrome
2784:Muscular Dystrophy Association
2751:Limbâgirdle muscular dystrophy
2174:10.1161/CIRCIMAGING.110.960740
1846:Continuum (Minneapolis, Minn.)
1709:Handbook of Clinical Neurology
1459:
1408:
1359:
1311:
1252:
1201:
1055:Muscular Dystrophy Association
1002:Muscular Dystrophy Association
996:In 1966 in the US and Canada,
790:Limbâgirdle muscular dystrophy
706:limbâgirdle muscular dystrophy
575:, affects predominantly boys.
323:Histone deacetylase inhibitors
321:and some muscle activity, and
250:. Muscular dystrophies may be
221:limbâgirdle muscular dystrophy
99:limbâgirdle muscular dystrophy
1:
3454:Hypogonadotropic hypogonadism
2810:National/International Events
2795:Myotonic Dystrophy Foundation
1920:Sports Science Handbook:I - Z
1618:National Institutes of Health
1561:10.1016/S0140-6736(02)07815-7
1543:Emery, Alan EH (2002-02-23).
1384:10.1016/S1474-4422(18)30025-5
1072:
909:
618:brain malformations, such as
582:Congenital muscular dystrophy
419:Progressive inability to walk
225:congenital muscular dystrophy
1918:Jenkins, Simon P.R. (2005).
1858:10.1212/CON.0000000000000399
1421:Medicina (Kaunas, Lithuania)
969:
480:
396:Progressive muscular wasting
383:Severe limb deformities and
7:
1997:"Myotonic Dystrophy Type 1"
1603:May 2006 report to Congress
1032:
823:Myotonic muscular dystrophy
634:Duchenne muscular dystrophy
573:Duchenne muscular dystrophy
329:) to delay damage to dying
262:. Diagnosis often involves
205:Duchenne muscular dystrophy
87:Duchenne muscular dystrophy
10:
3528:
2491:10.1016/j.spen.2011.10.010
2367:Berman, Ari (2011-09-02).
1545:"The muscular dystrophies"
1017:On December 18, 2001, the
978:
3469:
3431:Hyperparathyroid myopathy
3385:
3326:
3302:
3282:
3252:
3207:
3193:
3121:
3080:
3035:
2997:
2982:
2973:
2927:
2860:
2844:
2809:
2790:Muscular Dystrophy Canada
2776:
2706:
2631:
2553:
2209:. John Wiley & Sons.
1612:on Implementation of the
1066:Spinal muscular atrophies
1061:Muscular Dystrophy Canada
1023:Public Health Service Act
670:Distal muscular dystrophy
571:A less severe variant of
543:Becker muscular dystrophy
449:
209:Becker muscular dystrophy
169:
143:
131:
108:
91:Becker muscular dystrophy
81:
73:
59:
47:
38:
29:
24:
3426:Hypoparathyroid myopathy
3337:Glycogen storage disease
2420:, PDF as retrieved from
2244:10.1177/1545968313496326
1965:10.1136/jnnp.2008.158261
1434:10.3390/medicina57050488
1265:Comprehensive Physiology
1210:Comprehensive Physiology
1011:The Jerry Lewis Telethon
367:, meaning "no, un-" and
307:calcium channel blockers
3449:Late-onset hypogonadism
3440:Corticosteroid myopathy
3158:adaptor protein disease
2205:Eddy, Linda L. (2013).
1004:(MDA) began the annual
3352:Mitochondrial myopathy
3245:Paramyotonia congenita
2917:neuromuscular junction
1353:10.25259/JMSR_229_2023
919:
491:creatine phosphokinase
475:(spontaneous) mutation
388:
240:inherited from parents
190:neuromuscular diseases
54:Neuromuscular medicine
3477:Inflammatory myopathy
2921:neuromuscular disease
1499:Spontaneous mutations
1372:The Lancet. Neurology
1050:Muscular Dystrophy UK
917:
605:Generalised weakness
382:
3290:Central core disease
3172:cytoskeleton disease
2852:Stamulumab (MYO-029)
2825:(defunct; US/Canada)
1277:10.1002/cphy.c140048
1218:10.1002/cphy.c140048
1189:on 30 September 2016
928:occupational therapy
813:Upper arms and legs
527:Inheritance pattern
347:assisted ventilation
182:Muscular dystrophies
164:assisted ventilation
3482:Congenital myopathy
3459:Androgen deficiency
3419:Thyrotoxic myopathy
3017:Facioscapulohumeral
2746:Facioscapulohumeral
992:Society and culture
932:ankle-foot orthosis
918:Ankle foot orthosis
464:autosomal recessive
371:meaning "nourish".
256:autosomal recessive
121:autosomal recessive
85:> 30, including
3507:Muscular dystrophy
3328:Metabolic myopathy
3254:Periodic paralysis
3216:Myotonia congenita
2984:Muscular dystrophy
2823:Labor Day Telethon
2700:Muscular dystrophy
2632:External resources
2541:Muscular dystrophy
2416:2012-11-07 at the
2397:2012-02-19 at the
2091:orthoinfo.aaos.org
1608:2014-04-05 at the
1045:Muscle hypertrophy
986:Guillaume Duchenne
948:orthopedic surgery
920:
468:autosomal dominant
409:Muscle Contracture
389:
375:Signs and symptoms
260:autosomal dominant
252:X-linked recessive
217:myotonic dystrophy
125:autosomal dominant
117:X-linked recessive
103:myotonic dystrophy
25:Muscular dystrophy
3494:
3493:
3490:
3489:
3406:Hoffmann syndrome
3298:
3297:
3178:Nemaline myopathy
3117:
3116:
2948:Myasthenia gravis
2878:
2877:
2800:Muskelsvindfonden
2666:
2665:
2411:Public Law 107-84
2284:978-0-323-00765-8
2216:978-1-118-51797-0
1726:978-0-08-045031-5
1555:(9307): 687â695.
1227:978-0-470-65071-4
907:
906:
533:Muscles affected
351:breathing muscles
341:, and corrective
248:early development
179:
178:
133:Diagnostic method
69:, trouble walking
19:Medical condition
3519:
3436:Hypercortisolism
3347:AMPD1 deficiency
3303:ATPase disorder
3205:
3204:
3136:Bethlem myopathy
3130:collagen disease
3122:Other structural
2995:
2994:
2980:
2979:
2933:junction disease
2905:
2898:
2891:
2882:
2881:
2868:
2867:
2719:Dystrophinopathy
2693:
2686:
2679:
2670:
2669:
2551:
2550:
2527:
2526:
2512:
2502:
2469:
2459:
2425:
2408:
2402:
2389:
2383:
2382:
2380:
2379:
2364:
2358:
2357:
2355:
2353:
2336:
2330:
2329:
2319:
2295:
2289:
2288:
2270:
2264:
2263:
2227:
2221:
2220:
2202:
2196:
2195:
2185:
2153:
2147:
2146:
2136:
2112:
2106:
2105:
2103:
2102:
2083:
2077:
2076:
2074:
2072:
2053:
2044:
2043:
2037:
2033:
2031:
2023:
2021:
2020:
1992:
1986:
1985:
1967:
1949:
1940:
1934:
1933:
1929:978-0906522-37-0
1915:
1909:
1908:
1906:
1905:
1886:
1880:
1879:
1869:
1837:
1826:
1825:
1823:
1822:
1803:
1797:
1796:
1794:
1793:
1774:
1768:
1767:
1765:
1764:
1755:. Archived from
1745:
1739:
1738:
1704:
1698:
1697:
1695:
1694:
1675:
1669:
1668:
1666:
1665:
1646:
1637:
1626:
1620:
1600:
1589:
1588:
1540:
1534:
1533:
1531:
1529:
1510:
1504:
1503:
1493:
1487:
1486:
1484:
1483:
1463:
1457:
1456:
1446:
1436:
1412:
1406:
1405:
1395:
1363:
1357:
1356:
1335:
1326:
1315:
1309:
1308:
1298:
1271:(3): 1223â1239.
1256:
1250:
1249:
1239:
1205:
1199:
1198:
1196:
1194:
1175:
1134:
1133:
1131:
1129:
1110:
924:physical therapy
513:
512:
495:electromyography
335:Physical therapy
194:skeletal muscles
152:physical therapy
67:skeletal muscles
34:
22:
21:
3527:
3526:
3522:
3521:
3520:
3518:
3517:
3516:
3497:
3496:
3495:
3486:
3465:
3381:
3322:
3294:
3278:
3248:
3238:Isaacs syndrome
3221:Thomsen disease
3189:
3113:
3076:
3031:
3012:Oculopharyngeal
2986:
2969:
2931:
2923:
2909:
2879:
2874:
2856:
2845:Clinical trials
2840:
2817:MDA Muscle Walk
2805:
2772:
2768:Oculopharyngeal
2702:
2697:
2667:
2662:
2661:
2627:
2626:
2562:
2548:
2547:
2546:
2528:
2524:
2519:
2434:
2432:Further reading
2429:
2428:
2418:Wayback Machine
2409:
2405:
2399:Wayback Machine
2390:
2386:
2377:
2375:
2365:
2361:
2351:
2349:
2348:. 23 March 2020
2338:
2337:
2333:
2296:
2292:
2285:
2271:
2267:
2228:
2224:
2217:
2203:
2199:
2154:
2150:
2113:
2109:
2100:
2098:
2085:
2084:
2080:
2070:
2068:
2055:
2054:
2047:
2035:
2034:
2025:
2024:
2018:
2016:
1993:
1989:
1947:
1941:
1937:
1930:
1916:
1912:
1903:
1901:
1888:
1887:
1883:
1838:
1829:
1820:
1818:
1811:Ghr.nlm.nih.gov
1805:
1804:
1800:
1791:
1789:
1782:Ghr.nlm.nih.gov
1776:
1775:
1771:
1762:
1760:
1747:
1746:
1742:
1727:
1705:
1701:
1692:
1690:
1677:
1676:
1672:
1663:
1661:
1654:medlineplus.gov
1648:
1647:
1640:
1627:
1623:
1610:Wayback Machine
1601:
1592:
1541:
1537:
1527:
1525:
1512:
1511:
1507:
1494:
1490:
1481:
1479:
1464:
1460:
1413:
1409:
1364:
1360:
1336:
1329:
1316:
1312:
1287:
1257:
1253:
1228:
1206:
1202:
1192:
1190:
1177:
1176:
1137:
1127:
1125:
1124:on 30 July 2016
1112:
1111:
1080:
1075:
1070:
1057:(United States)
1035:
994:
981:
972:
912:
842:
831:
612:skeletal muscle
511:
499:genetic testing
483:
452:
447:
377:
315:anticonvulsants
295:glucocorticoids
283:antisense drugs
268:genetic testing
148:Pharmacotherapy
138:Genetic testing
20:
17:
12:
11:
5:
3525:
3515:
3514:
3509:
3492:
3491:
3488:
3487:
3485:
3484:
3479:
3473:
3471:
3467:
3466:
3464:
3463:
3462:
3461:
3456:
3451:
3443:
3442:
3441:
3433:
3428:
3423:
3422:
3421:
3410:
3409:
3408:
3403:
3391:
3389:
3387:Endocrinopathy
3383:
3382:
3380:
3379:
3373:
3368:
3363:
3358:
3349:
3344:
3339:
3332:
3330:
3324:
3323:
3321:
3311:
3309:
3308:
3307:
3300:
3299:
3296:
3295:
3293:
3292:
3286:
3284:
3280:
3279:
3277:
3276:
3271:
3270:
3269:
3258:
3256:
3250:
3249:
3247:
3242:
3241:
3240:
3230:
3229:
3228:
3226:Becker disease
3223:
3213:
3211:
3202:
3201:
3200:
3191:
3190:
3188:
3187:
3186:
3185:
3180:
3168:
3167:
3166:
3154:
3153:
3152:
3140:
3139:
3138:
3125:
3123:
3119:
3118:
3115:
3114:
3112:
3111:
3109:EmeryâDreifuss
3106:
3105:
3104:
3099:
3086:
3084:
3078:
3077:
3075:
3074:
3073:
3072:
3070:WalkerâWarburg
3067:
3062:
3052:
3047:
3041:
3039:
3033:
3032:
3030:
3029:
3024:
3019:
3014:
3009:
3003:
3001:
2992:
2977:
2971:
2970:
2968:
2967:
2962:
2961:
2960:
2955:
2950:
2937:
2935:
2929:Neuromuscular-
2925:
2924:
2908:
2907:
2900:
2893:
2885:
2876:
2875:
2873:
2872:
2861:
2858:
2857:
2855:
2854:
2848:
2846:
2842:
2841:
2839:
2838:
2832:
2826:
2820:
2813:
2811:
2807:
2806:
2804:
2803:
2797:
2792:
2787:
2780:
2778:
2774:
2773:
2771:
2770:
2765:
2760:
2759:
2758:
2748:
2743:
2741:Emery-Dreifuss
2738:
2733:
2732:
2731:
2726:
2716:
2710:
2708:
2704:
2703:
2696:
2695:
2688:
2681:
2673:
2664:
2663:
2660:
2659:
2648:
2636:
2635:
2633:
2629:
2628:
2625:
2624:
2613:
2594:
2579:
2563:
2558:
2557:
2555:
2554:Classification
2529:
2522:
2521:
2520:
2518:
2517:External links
2515:
2514:
2513:
2485:(4): 277â288.
2470:
2444:Acta Myologica
2433:
2430:
2427:
2426:
2403:
2384:
2359:
2331:
2310:(3): 129â134.
2290:
2283:
2265:
2238:(9): 816â827.
2222:
2215:
2197:
2148:
2121:Acta Myologica
2107:
2078:
2045:
2036:|website=
1987:
1935:
1928:
1910:
1896:. 2017-03-09.
1881:
1827:
1798:
1784:. 2017-03-07.
1769:
1740:
1725:
1699:
1685:. 2016-04-15.
1670:
1638:
1621:
1590:
1535:
1505:
1488:
1466:Choices, NHS.
1458:
1407:
1378:(4): 347â361.
1358:
1327:
1310:
1285:
1251:
1226:
1200:
1135:
1077:
1076:
1074:
1071:
1069:
1068:
1063:
1058:
1052:
1047:
1042:
1036:
1034:
1031:
993:
990:
980:
977:
971:
968:
911:
908:
905:
904:
902:
899:
896:
887:
880:
875:
867:
866:
861:Presents with
859:
856:
853:
848:
835:
826:
818:
817:
814:
811:
808:
799:
796:
793:
785:
784:
780:
777:
774:
769:
762:
757:
749:
748:
744:
741:
738:
725:
722:
719:
711:
710:
700:
697:
694:
685:
678:
673:
665:
664:
660:
657:
654:
649:
642:
637:
629:
628:
606:
603:
600:
591:
588:
585:
577:
576:
569:
566:
563:
558:
551:
546:
538:
537:
534:
531:
528:
525:
522:
517:
516:Disorder name
510:
509:Classification
507:
482:
479:
451:
448:
446:
445:
443:Cardiomyopathy
440:
434:
431:
425:
420:
417:
412:
406:
400:
397:
393:
376:
373:
177:
176:
173:
167:
166:
145:
141:
140:
135:
129:
128:
110:
106:
105:
83:
79:
78:
75:
71:
70:
63:
57:
56:
51:
45:
44:
36:
35:
27:
26:
18:
15:
9:
6:
4:
3:
2:
3524:
3513:
3510:
3508:
3505:
3504:
3502:
3483:
3480:
3478:
3475:
3474:
3472:
3468:
3460:
3457:
3455:
3452:
3450:
3447:
3446:
3444:
3439:
3438:
3437:
3434:
3432:
3429:
3427:
3424:
3420:
3417:
3416:
3414:
3411:
3407:
3404:
3402:
3399:
3398:
3396:
3393:
3392:
3390:
3388:
3384:
3377:
3374:
3372:
3369:
3367:
3364:
3362:
3359:
3357:
3353:
3350:
3348:
3345:
3343:
3340:
3338:
3334:
3333:
3331:
3329:
3325:
3319:
3315:
3314:Brody disease
3312:
3310:
3305:
3304:
3301:
3291:
3288:
3287:
3285:
3281:
3275:
3272:
3268:
3265:
3264:
3263:
3260:
3259:
3257:
3255:
3251:
3246:
3243:
3239:
3236:
3235:
3234:
3233:Neuromyotonia
3231:
3227:
3224:
3222:
3219:
3218:
3217:
3214:
3212:
3210:
3206:
3203:
3199:(ion channel)
3198:
3197:
3196:
3195:Channelopathy
3192:
3184:
3181:
3179:
3176:
3175:
3174:
3173:
3169:
3165:
3162:
3161:
3160:
3159:
3155:
3151:
3148:
3147:
3146:
3145:
3141:
3137:
3134:
3133:
3132:
3131:
3127:
3126:
3124:
3120:
3110:
3107:
3103:
3100:
3098:
3095:
3094:
3093:
3092:
3088:
3087:
3085:
3083:
3079:
3071:
3068:
3066:
3063:
3061:
3058:
3057:
3056:
3053:
3051:
3048:
3046:
3045:Calpainopathy
3043:
3042:
3040:
3038:
3034:
3028:
3027:Distal (most)
3025:
3023:
3020:
3018:
3015:
3013:
3010:
3008:
3005:
3004:
3002:
3000:
2996:
2993:
2990:
2985:
2981:
2978:
2976:
2972:
2966:
2963:
2959:
2958:Neuromyotonia
2956:
2954:
2951:
2949:
2946:
2945:
2944:
2943:
2939:
2938:
2936:
2934:
2930:
2926:
2922:
2918:
2914:
2906:
2901:
2899:
2894:
2892:
2887:
2886:
2883:
2871:
2863:
2862:
2859:
2853:
2850:
2849:
2847:
2843:
2836:
2833:
2830:
2827:
2824:
2821:
2818:
2815:
2814:
2812:
2808:
2801:
2798:
2796:
2793:
2791:
2788:
2785:
2782:
2781:
2779:
2775:
2769:
2766:
2764:
2761:
2757:
2756:Calpainopathy
2754:
2753:
2752:
2749:
2747:
2744:
2742:
2739:
2737:
2734:
2730:
2727:
2725:
2722:
2721:
2720:
2717:
2715:
2712:
2711:
2709:
2705:
2701:
2694:
2689:
2687:
2682:
2680:
2675:
2674:
2671:
2658:
2654:
2653:
2649:
2647:
2643:
2642:
2638:
2637:
2634:
2630:
2623:
2619:
2618:
2614:
2612:
2608:
2604:
2603:
2599:
2595:
2593:
2589:
2588:
2584:
2580:
2578:
2574:
2573:
2569:
2565:
2564:
2561:
2556:
2552:
2544:
2543:
2542:
2536:
2532:
2510:
2506:
2501:
2496:
2492:
2488:
2484:
2480:
2476:
2471:
2467:
2463:
2458:
2453:
2449:
2445:
2441:
2436:
2435:
2423:
2419:
2415:
2412:
2407:
2400:
2396:
2393:
2388:
2374:
2370:
2363:
2347:
2346:
2341:
2335:
2327:
2323:
2318:
2313:
2309:
2305:
2301:
2294:
2286:
2280:
2276:
2269:
2261:
2257:
2253:
2249:
2245:
2241:
2237:
2233:
2226:
2218:
2212:
2208:
2201:
2193:
2189:
2184:
2179:
2175:
2171:
2167:
2163:
2159:
2152:
2144:
2140:
2135:
2130:
2126:
2122:
2118:
2111:
2096:
2092:
2088:
2082:
2066:
2063:. NIH. 2015.
2062:
2058:
2052:
2050:
2041:
2029:
2014:
2010:
2006:
2002:
1998:
1991:
1983:
1979:
1975:
1971:
1966:
1961:
1958:(4): 358â67.
1957:
1953:
1946:
1939:
1931:
1925:
1921:
1914:
1899:
1895:
1891:
1885:
1877:
1873:
1868:
1863:
1859:
1855:
1851:
1847:
1843:
1836:
1834:
1832:
1816:
1812:
1808:
1802:
1787:
1783:
1779:
1773:
1759:on 2017-03-10
1758:
1754:
1750:
1744:
1736:
1732:
1728:
1722:
1718:
1714:
1710:
1703:
1688:
1684:
1680:
1674:
1659:
1655:
1651:
1645:
1643:
1636:
1632:
1631:
1625:
1619:
1615:
1611:
1607:
1604:
1599:
1597:
1595:
1586:
1582:
1578:
1574:
1570:
1566:
1562:
1558:
1554:
1550:
1546:
1539:
1523:
1520:. NIH. 2015.
1519:
1515:
1509:
1501:
1500:
1492:
1477:
1473:
1469:
1462:
1454:
1450:
1445:
1440:
1435:
1430:
1426:
1422:
1418:
1411:
1403:
1399:
1394:
1389:
1385:
1381:
1377:
1373:
1369:
1362:
1354:
1350:
1346:
1342:
1334:
1332:
1325:
1321:
1320:
1314:
1306:
1302:
1297:
1292:
1288:
1286:9780470650714
1282:
1278:
1274:
1270:
1266:
1262:
1255:
1247:
1243:
1238:
1233:
1229:
1223:
1219:
1215:
1211:
1204:
1188:
1184:
1180:
1174:
1172:
1170:
1168:
1166:
1164:
1162:
1160:
1158:
1156:
1154:
1152:
1150:
1148:
1146:
1144:
1142:
1140:
1123:
1119:
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3413:Hyperthyroid
3274:Hyperkalemic
3170:
3156:
3150:X-linked MTM
3142:
3128:
3089:
2983:
2940:
2911:Diseases of
2835:Grøn Koncert
2699:
2657:orthoped/418
2650:
2639:
2615:
2596:
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2566:
2539:
2538:
2537:profile for
2534:
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1951:
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1893:
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1810:
1801:
1790:. Retrieved
1781:
1772:
1761:. Retrieved
1757:the original
1752:
1743:
1708:
1702:
1691:. Retrieved
1683:Patient.info
1682:
1673:
1662:. Retrieved
1653:
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1193:12 September
1191:. Retrieved
1187:the original
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1128:12 September
1126:. Retrieved
1122:the original
1117:
1016:
1009:
995:
982:
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898:40â50 years
882:
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788:
776:Adolescence
764:
752:
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696:20â60 years
680:
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644:
632:
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609:
580:
553:
541:
536:Description
503:
489:, increased
484:
472:
453:
428:Gowers' sign
399:Poor balance
390:
385:contractures
368:
364:
361:Charles Bell
358:
355:
331:muscle cells
275:gene therapy
272:
229:
202:
185:
181:
180:
3395:Hypothyroid
3262:Hypokalemic
3144:PTP disease
2641:MedlinePlus
1894:Nlm.nih.gov
1614:MD CARE Act
1019:MD CARE Act
998:Jerry Lewis
940:deflazacort
439:difficulty
437:Respiratory
317:to control
299:Deflazacort
264:blood tests
3501:Categories
3306:(ion pump)
3267:Thyrotoxic
3183:Zaspopathy
3091:dystrophin
3055:Congenital
2942:autoimmune
2829:DĂŠcrypthon
2714:Congenital
2450:(1): 4â8.
2378:2017-03-14
2373:The Nation
2101:2016-04-10
2019:2017-03-14
1904:2017-03-14
1821:2017-03-14
1792:2017-03-14
1763:2017-03-14
1693:2017-03-14
1664:2017-03-14
1549:The Lancet
1482:2016-04-10
1472:www.nhs.uk
1427:(5): 488.
1073:References
936:prednisone
910:Management
855:Adulthood
656:Childhood
565:Childhood
327:Givinostat
303:Vamorolone
291:Eteplirsen
219:, whereas
41:dystrophin
3415:myopathy
3397:myopathy
2837:(Denmark)
2802:(Denmark)
2652:eMedicine
2038:ignored (
2028:cite book
1635:eMedicine
1569:0140-6736
1347:: 11â23.
1324:eMedicine
1008:telecast
1006:Labor Day
970:Prognosis
952:pacemaker
892:, rarely
798:Multiple
795:Multiple
724:Multiple
721:Multiple
602:At birth
590:Multiple
587:Multiple
481:Diagnosis
456:inherited
403:Scoliosis
311:Diltiazem
232:mutations
171:Prognosis
144:Treatment
49:Specialty
3209:Myotonia
3102:Duchenne
3097:Becker's
3060:Fukuyama
3022:Myotonic
2975:Myopathy
2870:Category
2831:(France)
2763:Myotonic
2729:Duchenne
2724:Becker's
2509:22172424
2466:22655510
2414:Archived
2395:Archived
2326:21912442
2252:23884013
2192:21245364
2143:22655512
2095:Archived
2071:10 April
2065:Archived
2013:Archived
2009:20301344
1974:20176601
1898:Archived
1876:27922500
1815:Archived
1786:Archived
1753:Omim.org
1735:21496636
1687:Archived
1658:Archived
1606:Archived
1585:31578361
1577:11879882
1528:10 April
1522:Archived
1476:Archived
1453:34066119
1402:29395990
1305:26140716
1246:26140716
1033:See also
1000:and the
956:myotonia
944:Orthoses
863:myotonia
493:(CpK3),
460:X-linked
319:seizures
287:Ataluren
279:Elevidys
74:Duration
61:Symptoms
3470:General
3335:Muscle
3065:Ullrich
2622:D009136
2531:Scholia
2500:3332154
2457:3440798
2424:website
2352:7 April
2317:3157948
2260:9990910
2183:3057042
2134:3440807
2061:NIH.gov
1982:2453622
1867:5898965
1518:NIH.gov
1444:8151418
1393:5889091
1296:4767260
1237:4767260
979:History
473:de novo
343:surgery
281:), and
246:during
160:surgery
113:Genetic
77:Chronic
3318:ATP2A1
2919:, and
2913:muscle
2736:Distal
2646:001190
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938:, and
884:PABPN1
878:164300
833:602668
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760:158900
676:254130
640:310200
549:300376
497:, and
450:Causes
369:troph-
339:braces
215:, and
198:organs
156:braces
109:Causes
3376:MNGIE
3361:MERRF
3356:MELAS
3283:Other
2707:Types
2611:359.1
2607:359.0
2592:G71.0
2535:topic
2256:S2CID
1978:S2CID
1948:(PDF)
1581:S2CID
1183:NINDS
1118:NINDS
524:Gene
258:, or
236:genes
123:, or
82:Types
2989:DAPC
2819:(US)
2786:(US)
2617:MeSH
2602:9-CM
2577:8C70
2505:PMID
2462:PMID
2354:2020
2322:PMID
2279:ISBN
2248:PMID
2211:ISBN
2188:PMID
2139:PMID
2073:2016
2040:help
2005:PMID
1970:PMID
1924:ISBN
1872:PMID
1731:PMID
1721:ISBN
1573:PMID
1565:ISSN
1530:2016
1449:PMID
1398:PMID
1301:PMID
1281:ISBN
1242:PMID
1222:ISBN
1195:2016
1130:2016
845:CNBP
839:DMPK
810:Any
766:DUX4
682:DYSF
622:and
520:OMIM
266:and
223:and
3371:PEO
3366:KSS
2598:ICD
2583:ICD
2568:ICD
2495:PMC
2487:doi
2452:PMC
2422:NIH
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2240:doi
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1960:doi
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1232:PMC
1214:doi
646:DMD
555:DMD
466:or
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