Muscular Dystrophies and Other Genetic Myopathies

Neurologic Clinics

Volumn 31, Issue 4, 2013, Pages 1009-1029

  Shieh, Perry B ^a  

^a UCLA MEDICAL CENTER   (United States)

Author keywords

Congenital; FSHD; Limb Girdle; Metabolic; Muscular dystrophy; Myopathy; Myotonic dystrophy

Indexed keywords

ALGORITHM; COMORBIDITY; ELECTROMYOGRAM; GENE THERAPY; GENETIC DISORDER; GENETIC SCREENING; HUMAN; LONGEVITY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOPATHY; PRIORITY JOURNAL; QUALITY OF LIFE; REVIEW;

CONGENITAL; FSHD; LIMB-GIRDLE; METABOLIC; MUSCULAR DYSTROPHY; MYOPATHY; MYOTONIC DYSTROPHY;

HUMANS; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES;

EID: 84886411393     PISSN: 07338619     EISSN: 15579875     Source Type: Journal    
DOI: 10.1016/j.ncl.2013.04.004     Document Type: Review

References (69)

1. Bushby K., Finkel R., Birnkrant D.J., et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010, 9:77-93.
2. Barbujani G., Russo A., Danieli G.A., et al. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 1990, 84:522-526.
3. Monaco A.P., Bertelson C.J., Liechti-Gallati S., et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2:90-95.
4. Bushby K., Finkel R., Birnkrant D.J., et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010, 9:177-189.
5. Nelson S.F., Crosbie R.H., Miceli M.C., et al. Emerging genetic therapies to treat Duchenne muscular dystrophy. Curr Opin Neurol 2009, 22:532-538.
6. Verhaart I.E., Aartsma-Rus A. Gene therapy for Duchenne muscular dystrophy. Curr Opin Neurol 2012, 25:588-596.
7. Finkel R.S. Read-through strategies for suppression of nonsense mutations in Duchenne/Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). JChild Neurol 2010, 25:1158-1164.
8. Cirak S., Arechavala-Gomeza V., Guglieri M., et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011, 378:595-605.
9. Goemans N.M., Tulinius M., van den Akker J.T., et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. NEngl J Med 2011, 364:1513-1522.
10. van der Maarel S.M., Miller D.G., Tawil R., et al. Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. Curr Opin Neurol 2012, 25:614-620.
11. van Overveld P.G., LEmmers R.J., Sandkuijl L.A., et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 2003, 35:315-317.
12. Lemmers R.J., van der Vliet P.J., Klooster R. Aunifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010, 329:1650-1653.
13. de Greef J.C., Lemmers R.J., Camaño P., et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010, 75:1548-1554.
14. Lemmers R.J., Tawil R., Petek L.M., et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 2012, 44:1370-1374.
15. Sahenk Z., Mendell J.R. The muscular dystrophies: distinct pathogenic mechanisms invite novel therapeutic approaches. Curr Rheumatol Rep 2011, 13:199-207.
16. Klinge L., Eagle M., Haggerty I.D., et al. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2006, 16:553-558.
17. Tawil R., Figlewicz D.A., Griggs R.C., et al. Facioscapulohumeral Dystrophy: a distinct regional myopathy with a novel molefular pathogenesis. Ann Neurol 1998, 432:279-282.
18. Orphanet Report Series-Prevalence of rare diseases: Bibliographic data-November 2012-Number 1. Available at: http://www.orpha.net/consor/cgi-bin/Education.php%3flng%3dEN.
19. Udd B., Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 2012, 11:891-905.
20. Wheeler T.M., Thornton C.A. Myotonic dystrophy: RNA-mediated muscle disease. Curr Opin Neurol 2007, 20:572-576.
21. Wheeler T.M., Leger A.J., Pandey S.K., et al. Targeting nuclear RNA for invivo correction of myotonic dystrophy. Nature 2012, 488:111-115.
22. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009, 9:314-323.
23. Ellis J.A. Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on. Cell Mol Life Sci 2006, 63:2702-2709.
24. Zhang Q., Bethmann C., Worth N.F., et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007, 16:2816-2833.
25. Gueneau L., Bertrand A.T., Jais J.P., et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2009, 85(3):338-353.
26. Liang W.C., Mitsuhashi H., Keduka E., et al. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol 2011, 69:1005-1013.
27. Udd B. Distal myopathies - new genetic entities expand diagnostic challenge. Neuromuscul Disord 2012, 22:5-12.
28. Hackman P., Sarparanta J., Lehtinen S., et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol 2013, 73:500-509.
29. Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011, 21:161-171.
30. Sarparanta J., Jonson P.H., Golzio C., et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet 2012, 44:450-455.
31. Brais B. Oculopharyngeal muscular dystrophy: a polyalanine myopathy. Curr Neurol Neurosci Rep 2009, 9:76-82.
32. Durmus H., Laval S.H., Deymeer F., et al. Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients. Neurology 2011, 76:227-235.
33. Romero N.B., Bitoun M. Centronuclear mypoathies. Semin Pediatr Neurol 2011, 18:250-256.
34. Ceyhan O., Agrawal P.B., Hidalgo C., et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013, 81:1205-1214.
35. Wallgren-Pettersson C., Sewry C.A., Nowak K.J., et al. Nemaline myopathies. Semin Pediatr Neurol 2011, 18:230-238.
36. Jungbluth H., Sewry C.A., Muntoni F. Core myopathies. Semin Pediatr Neurol 2011, 18:239-249.
37. Clarke N.F. Congenital fiber type disproportion. Semin Pediatr Neurol 2011, 18:264-271.
38. Mercuri E., Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol 2012, 72:9-17.
39. Engel A.G. Current status of the congenital myasthenic syndromes. Neuromuscul Disord 2012, 22:99-111.
40. Chaouch A., Beeson D., Hantaï D., et al. 186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands. Neuromuscul Disord 2012, 22:566-576.
41. Berardo A., DiMauro S., Hirano M. Adiagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010, 10:118-126.
42. Raja Rayan D.L., Hanna M.G. Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. Curr Opin Neurol 2010, 23:466-476.
43. Ryan D.P., da Silva M.R., Soong T.W., et al. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell 2010, 140:88-98.
44. Nishino I. Autophagic vacuolar myopathy. Semin Pediatr Neurol 2006, 13:90-95.
45. Mizushima N., Levine B., Cuervo A.M., et al. Autophagy fights disease through cellular self digestion. Nature 2008, 451:1069-1075.
46. Sugie K., Yamamoto A., Murayama K., et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002, 58:1773-1778.
47. Ramachandran N., Munteanu I., Wang P., et al. VMA21 deficiency prevents vacuolar ATPase assembly and cause autophagic vacuolar myopathy. Acta Neuropathol 2013, 125:439-457.
48. Sylvius N., Tesson F. Lamin A/C and cardiac diseases. Curr Opin Cardiol 2006, 21:159-165.
49. Beltrán-Valero de Bernabé D., Currier S., Steinbrecher A., et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002, 71:1033-1043.
50. van Reeuwijk J., Janssen M., van den Elzen C., et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. JMed Genet 2005, 42:907-912.
51. van Reeuwijk J., Grewal P.K., Salih M.A., et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007, 121:685-690.
52. de Bernabé D.B., van Bokhoven H., van Beusekom E., et al. Ahomozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. JMed Genet 2003, 40:845-848.
53. Beltran-Valero de Bernabé D., Voit T., Longman C., et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. JMed Genet 2004, 41:e61.
54. Willer T., Lee H., Lommel M., et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet 2012, 44:575-580.
55. Roscioli T., Kamsteeg E.J., Buysse K., et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet 2012, 44:581-585.
56. Manzini M.C., Tambunan D.E., Hill R.S., et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 2012, 91:541-547.
57. Buysse K., Riemersma M., Powell G., et al. Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet 2013, 22:1746-1754.
58. Stevens E., Carss K.J., Cirak S., et al. Mutations in b3galnt2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013, 92:354-365.
59. Yoshida A., Kobayashi K., Manya H., et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001, 1:717-724.
60. Kobayashi K., Nakahori Y., Miyake M., et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998, 394:388-392.
61. Taniguchi K., Kobayashi K., Saito K., et al. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet 2003, 12:527-534.
62. Collins J., Bönnemann C.G. Congenital muscular dystrophies: toward molecular therapeutic interventions. Curr Neurol Neurosci Rep 2010, 10:83-91.
63. Mercuri E., Poppe M., Quinlivan R., et al. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol 2004, 61:690-694.
64. Liang W.C., Ohkuma A., Hayashi Y.K., et al. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 2009, 19:212-216.
65. Wen B., Dai T., Li W., et al. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. JNeurol Neurosurg Psychiatry 2010, 81:231-236.
66. Vielhaber S., Feistner H., Weis J., et al. Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course. JClin Neurosci 2004, 11:919-924.
67. Braakhekke J.P., de Bruin M.I., Stegeman D.F., et al. The second wind phenomenon in McArdle's disease. Brain 1986, 109:1087-1101.
68. Kishnani P.S., Corzo D., Nicolino M., et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile onset Pompe disease. Neurology 2007, 68:99-109.
69. van der Ploeg A.T., Clemens P.R., Corzo D., et al. Arandomized study of alglucosidase alfa in late-onset pompe's disease. NEngl J Med 2010, 362:1396-1406.