Progressive muscular dystrophies

Handbook of Clinical Neurology

Volumn 113, Issue , 2013, Pages 1343-1366

  Chelly, Jamel ^a   Desguerre, Isabelle ^b  

^a INSTITUT COCHIN   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876837329     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00006-X     Document Type: Chapter

References (77)

1. Acsadi G., Dickson G., Love D.R., et al. Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. Nature 1991, 352:815-818.
2. Anderson L.V., Davison K. Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 1999, 154:1017-1022.
3. Bakker J.P., de Groot I.J., Beckerman H., et al. The effects of knee-ankle-foot orthoses in the treatment of Duchenne muscular dystrophy: review of the literature. Clin Rehabil 2000, 14:343-359.
4. Bardoni A., Felisari G., Sironi M., et al. Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies. Neuromuscul Disord 2000, 10:194-199.
5. Beggs A.H., Koenig M., Boyce F.M., et al. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990, 86:45-48.
6. Blake D.J., Weir A., Newey S.E., et al. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002, 82:291-329.
7. Bolduc V., Marlow G., Boycott K.M., et al. Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet 2010, 86:213-221.
8. Brooke M.H., Fenichel G.M., Griggs R.C., et al. Clinical investigation in Duchenne dystrophy: determination of the power of therapeutic trials based on natural history. Muscle Nerve 1983, 6:91-103.
9. Brooke M.H., Fenichel G.M., Griggs R.C., et al. Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology 1989, 39:475-481.
10. Brouwer O.F., Padberg G.W., Wijmenga C., et al. Facioscapulohumeral muscular dystrophy in early childhood. Arch Neurol 1994, 51:387-394.
11. Bushby K.M. The limb-girdle muscular dystrophies - multiple genes, multiple mechanisms. Hum Mol Genet 1999, 8:1875-1882.
12. Campbell K.P., Kahl S.D. Association of dystrophin and an integral membrane glycoprotein. Nature 1989, 338:259-262.
13. Chae J., Minami N., Jin Y., et al. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy. Neuromuscul Disord 2001, 11:547-555.
14. Chamberlain J.S. ACE inhibitor bulks up muscle. Nat Med 2007, 13:125-126.
15. Connuck D.M., Sleeper L.A., Colan S.D., et al. Study Group. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J 2008, 155:998-1005.
16. Cotton S., Vodaris N.J., Greenwood K.M. Intelligence and Duchenne muscular dystrophy, full scale, verbal and performance intelligence quotients. Dev Med Child Neurol 2001, 43:497-501.
17. Daftary A.S., Crisanti M., Calra M., et al. Effects of long term steroids on cough efficiency and respiratory muscle strength in patients with Duchenne muscular dystrophy. Pediatrics 2007, 119:320-324.
18. Daoud F., Candelario-Martínez A., Billard J.M., et al. Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions. PLoS One 2008, 4:e6574.
19. Daoud F., Angeard N., Demerre B., et al. Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet 2009, 18:3779-3794.
20. Deburgrave N., Daoud F., Llense S., et al. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat 2007, 28:183-195.
21. Desguerre I., Christov C., Mayer M., et al. Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One 2009, 4:e4347.
22. Desguerre I., Mayer M., Leturcq F., et al. Endomysial fibrosis in Duchenne muscular dystrophy: a marker of poor outcome associated with macrophage alternative activation. J Neuropathol Exp Neurol 2009, 68:762-773.
23. Dolinsky L.C., de Moura-Neto R.S., Falcão-Conceição D.N. DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene. Neuromuscul Disord 2002, 12:845-848.
24. Duboc D., Meune C., Lerebours G., et al. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 2005, 45:855-867.
25. Duboc D., Meune C., Pierre B., et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J 2007, 154:596-602.
26. Eagle M., Bourke J., Bullock R., et al. Managing Duchenne muscular dystrophy. The additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord 2007, 17:470-475.
27. Emery A.E.H. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1991, 1:10-29.
28. Emery A., Muntoni F. Duchenne muscular dystrophy 2003, Oxford University Press, Oxford. 3rd edn.
29. Engel A.G., Osawa C. Dystrophinopathies. Myology 2004, 961-1020. McGraw Hill, New York. A.G. Engel, C. Franzini-Armstrong (Eds.).
30. England S.B., Nicholson L.V., Johnson M.A., et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 1990, 343:180-182.
31. Fanin M., Freda M.P., Vitiello L., et al. Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?. Muscle Nerve 1996, 19:1154-1160.
32. Fanin M., Nascimbeni A.C., Aurino S., et al. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology 2009, 72:1432-1435.
33. Felisari G., Martinelli Boneschi F., Bardoni A., et al. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology 2000, 55:559-564.
34. Ferlini A., Sewry C., Melis M., et al. X-linked dilated cardiomyopathy and the dystrophin gene. Neuromuscul Disord 1999, 9:339-346.
35. Funakoshi M., Goto K., Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 1998, 50:1791-1794.
36. Grosso S., Mostardini R., Di Bartolo R.M., et al. Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy. Eur J Paediatr Neurol 2011, 15:456-460.
37. Hicks D., Sarkozy A., Muelas N., et al. A founder mutation in anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain 2011, 134:171-182.
38. Hofstra R.M., Mulder I.M., Vossen R., et al. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Hum Mutat 2004, 23:57-66.
39. Hoogerwaard E.M., Bakker E., Ippel P.F., et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999, 353:2116-2119.
40. Huang X., Poy F., Zhang R., et al. Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan. Nat Struct Biol 2000, 7:634-638.
41. Jeppesen J., Green A., Steffensen B.F., et al. The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use. Neuromuscul Disord 2003, 13:804-812.
42. Kaplan J.C. The 2012 version of the gene table of monogenic neuromuscular disorders. Neuromuscul Disord 2011, 21:833-861.
43. Klinge L., Eagle M., Haggerty I.D., et al. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2006, 16:553-558.
44. Lee J.S., Pfund Z., Juhász C., et al. Altered regional brain glucose metabolism in Duchenne muscular dystrophy: a pet study. Muscle Nerve 2002, 26:506-512.
45. Lemmers R.J., van der Vliet P.J., Klooster R., et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010, 329:1650-1653.
46. Lim L.E., Campbell K.P. The sarcoglycan complex in limb-girdle muscular dystrophy. Curr Opin Neurol 1998, 11:443-452.
47. Manzur A.Y., Kuntzer T., Pike M., et al. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2008, CD003725.
48. Mehler M.F. Brain dystrophin, neurogenetics and mental retardation. Brain Res Rev 2000, 32:277-307.
49. Mercuri E., Bushby K., Ricci E., et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 2005, 15:164-171.
50. Milic A., Daniele N., Lochmüller H., et al. A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. Neuromuscul Disord 2007, 17:148-156.
51. Mok E., Beghin L., Gauchon P. Estimation body composition in children with Duchenne muscular dystrophy: comparison of bioelectrical impedance analysis and skin fold thickness measurement. Am J Clin Nutr 2006, 83:63-69.
52. Monaco A.P., Neve R.L., Colletti-Feener C., et al. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 1986, 323:646-650.
53. 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.
54. Muntoni F., Gobbi P., Sewry C., et al. Deletions in the 5' region of dystrophin and resulting phenotypes. J Med Genet 1994, 31:843-847.
55. Muntoni F., Torelli S., Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003, 2:731-740.
56. Nevo Y., Muntoni F., Sewry C., et al. Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype. Isr Med Assoc J 2003, 5:94-97.
57. Nguyen K., Bassez G., Bernard R. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat 2005, 26:165.
58. Nguyen K., Bassez G., Krahn M., et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007, 64:1176-1182.
59. Nicholson L.V., Johnson M.A., Bushby K.M., et al. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical and histopathological data. Trends across the clinical groups. J Med Genet 1993, 30:728-736.
60. Prior T.W., Bartolo C., Pearl D.K., et al. Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet 1995, 57:22-33.
61. Rae C., Scott R.B., Thompson C.H., et al. Brain biochemistry in Duchenne muscular dystrophy: a 1H magnetic resonance and neuropsychological study. J Neurol Sci 1998, 160:148-157.
62. Ragot T., Vincent N., Chafey P., et al. Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice. Nature 1993, 361:647-650.
63. Saillour Y., Cossée M., Leturcq F., et al. Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat 2008, 29:1083-1090.
64. Saito Y., Miyashita S., Yokoyama A. Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy. Brain Dev 2007, 29:231-233.
65. Sewry C.A., Sansome A., Clerk A., et al. Manifesting carriers of Xp21 muscular dystrophy: lack of correlation between dystrophin expression and clinical weakness. Neuromuscul Disord 1993, 3:141-148.
66. Straub V., Campbell K.P. Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol 1997, 10:168-175.
67. Taylor P.J., Betts G.A., Maroulis S., et al. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One 2010, 5:e8803.
68. Tinsley J.M., Blake D.J., Pearce M., et al. Dystrophin and related proteins. Curr Opin Genet Dev 1993, 3:484-490.
69. Topaloĝlu H., Dinçer P., Richard I. Calpain-3 deficiency causes a mild muscular dystrophy in childhood. Neuropediatrics 1997, 28:212-216.
70. Trabelsi M., Kavian N., Daoud F., et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet 2008, 16:793-803.
71. Van Essen A.J., Verheij J.B.G.M., Reefhuis J., et al. The natural history of Duchenne muscular dystrophy: analysis of data from a Dutch survey and review of age-related events. Online Leyden Muscular Dystrophy pages© 2004, Available at, Accessed May 13, 2009. http://www.dmd.nl/.
72. Voermans N.C., van Alfen N., Drost G., et al. Thought ripples on muscle waves: recognition of rippling muscle disease. Neuropediatrics 2008, 39:116-118.
73. Wicksell R.K., Khilgren M., Melin L., et al. Specific cognitive deficits are common in children with Duchenne muscular dystrophy. Dev Med Child Neurol 2004, 46:154-156.
74. Willing T.N., Carlier L., Legrand M., et al. Nutritional assessment in Duchenne muscular dystrophy. Dev Med Child Neurol 1993, 35:1074-1082.
75. Winnard A.V., Mendell J.R., Prior T.W., et al. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet 1995, 56:158-166.
76. Yan J., Feng J., Buzin C.H., et al. Three-tiered non-invasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat 2004, 23:203-204.
77. Zimprich A., Grabowski M., Asmus F., et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001, 29:66-69.