Diagnostic approach to muscular dystrophies-recent developments and case reports;Aktuelle diagnostik bei muskeldystrophien. Neue entwicklungen, untersuchungsmethoden und fallbeispiele

Nervenarzt

Volumn 70, Issue 2, 1999, Pages 89-100

  Weilbach, F X ^a   Kress W ^b   Strassburg H M ^a   Muller C R ^b   Gold, R ^a  

^a UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Adhalin; Becker muscular dystrophy; Calpain 3; Duchenne muscular dystrophy; Dystrophin; Emerin; Emery Dreifuss muscular dystrophy; Limb girdle dystrophy; Merosin; Sarcoglycan

Indexed keywords

CALPAIN; DYSTROPHIN; EMERIN; SARCOGLYCAN;

AUTOSOMAL RECESSIVE DISORDER; EMERY DREIFUSS MUSCULAR DYSTROPHY; HUMAN; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MOLECULAR GENETICS; MUSCULAR DYSTROPHY; REVIEW;

EID: 0345059902     PISSN: 00282804     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001150050408     Document Type: Review

References (60)

1. Ahn AH, Kunkel LM (1993) The structural and functional diversity of dystrophin. Nat Genet 3:283-291
2. Angelini C, Fanin M, Pegoraro E, Freda MP, Cadaldini M, Martinello F (1994) Clinicalmolecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes. Neuromus Dis 4:349-358
3. Arikawa E, Hoffman EP, Kaido M, Nonaka I, Sugita H, Arahata K (1991) The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 41:1491-1496
4. Azibi K, Bachner L, Beckmann JS, Matsumura K, Hamouda E, Chaouch M, Chaouch A, Ait-Ouarab R, Vignal A, Weissenbach J, et al (1993) Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Mol Genet 2:1423-1428
5. Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45-48
6. Bettecken T, Müller CR (1989) Identification of a 220-kb insertion into the Duchenne gene in a family with an atypical course of muslular dystrophy. Genomics 4:592-596
7. Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D (1994) Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 8:323-327
8. Brown R Jr (1996) Dystrophin-associated proteins and the muscular dystrophies: a glossary. Brain Pathol 6:19-24
9. Bulman DE, Murphy EG, Zubrzycka-Gaarn EE, Worton RG, Ray PN (1991) Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxyterminal antisera specific for dystrophin. Am J Hum Genet 48:295-304
10. Bushby KM, Beckmann JS (1995) The limb-girdle muscular dystrophies - proposal for a new nomenclature. Neuromuscul Disord 5:337-543
11. Carrie A, Piccolo F, Leturcq F, de-Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tome FM, Fardeau M, Sunada Y, et al (1997) Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 34:470-475
12. Chamberlain JS, Farwell NJ, Chamberlain JR, Cox GA, Caskey CT (1991) PCR analysis of dystrophin gene mutation and expression. J Cell Biochem 46:255-259
13. Chelly J, Gilgenkrantz H, Lambert M, Hamard G, Chafey P, Recan D, Katz P, de-la-Chapelle A, Koenig M, Ginjaar IB, et al (1990) Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell 63:1239-1248
14. Deconinck AE, Rafael JA, Skinner JA, Brown SC, Potter AC, Metzinger L, Watt DJ, Dickson G, Tinsley JM, Davies KE (1997) Utrophin-Dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell 90:717-727
15. Dubowitz V (1985) Muscle biopsy. A practical approach. Baillière Tindall, London
16. Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C (1997) Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med 336:618-624
17. Ehrig K, Leivo I, Argraves WS, Ruoslahti E, Engvall E (1990) Merosin, a tissue-specific basement membrane protein, is a laminin-like protein. Proc Natl Acad Sci USA 87:3264-3268
18. Emery AEH (1989) Emery-Dreifuss syndrome. J Med Genet 26:637-641
19. Ervasti JM, Campbell KP (1993) A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 122:809-823
20. Eymard B, Romero NB, Leturcq F, Piccolo F, Carrie A, Jeanpierre M, Collin H, Deburgrave N, Azibi K, Chaouch M, Merlini L, Themar-Noel C, Penisson I, Mayer M, Tanguy O et al (1997) Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 48:1227-1234
21. Fanin M, Duggan DJ, Mostacciuolo ML, Martinello F, Freda MP, Soraru G, Trevisan CP, Hoffman EP, Angelini C (1997) Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet 34:973-977
22. Fardeau M, Eymard B, Mignard C, Tome FM, Richard I, Beckmann JS (1996) Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities. Neuromuscul Disord 6:447-453
23. Frydman M, Straussberg R, Shomrat R, Goebel H, Legum C, Shiloh Y (1995) Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family. Am J Med Genet 58:209-212
24. Gold R, Kress W, Meurers B, Muller CR, Reichmann H (1991) Die Bedeutung von Dystrophinanalysen bei adulten Myopathien. Untersuchungsmethoden, Fallbeispiele und derzeitige pathogenetische Vorstellungen. Nervenarzt 62:360-368
25. Gold R, Kress W, Reichmann H, Muller CR (1993) The use of monoclonal antibodies in diagnostic tests for Becker and Duchenne muscular dystrophy. J Neurol 240:21-24
26. Gold R, Meurers B, Reichmann H, Kress W, Muller CR (1990) Duchenne muscular dystrophy: evidence for somatic reversion of the mutation in man. J Neurol 237:494-495
27. Gospe SM, Lazaro RP, Lava NS, Grootscholten BS, Scott MO, Fischbeck KH (1989) Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology 39:1277-1280
28. Grady RM, Teng H, Nichol MC, Cunningham JC, Wilkinson RS, Sanes JR (1997) Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy. Cell 90:729-738
29. Guicheney P, Vignier N, Helbling-Leclerc A, Nissinen M, Zhang X, Cruaud C, Lambert JC, Richelme C, Topaloglu H, Merlini L, Barois A, Schwartz K, Tome FM, Tryggvason K, Fardeau M (1997) Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. Neuromuscul Disord 7:180-186
30. Gussoni E, Blau HM, Kunkel LM (1997) The fate of individual myoblasts after tranplantation into muscles of DMD patients. Nature Med 3:970-977
31. Hirai S, Kawasaki N, Yaniv M, Suuki K (1991) Degradation of transcription factors, c-Jun and c-Fos, by calpain. FEBS Lett 1:57-61
32. Hoffman E, Fischbeck K, Brown R, Johnson M, Medori R, Loike J, Harris J, Waterson R, Brooke M, Specht L, Kuspky W, Chamberlain J, Caskey C, Shapiro F, Kunkel L (1988) Dystrophin characterization in muscle biopsies form Duchenne and Becker musular dystrophy patients. N Engl J Med 318:1363-1368
33. Hoffman EP (1996) Clinical and histopathological features of abnormalities of the dystrophin-based membrane cytoskeleton. Brain Pathol 6:49-61
34. Hoffman EP, Arahata K, Minetti C, Bonilla E, Rowland LP (1992) Dystrophinopathy in isolated cases of myopathy in females. Neurology 42:967-975
35. Hoffman EP, Morgan JE, Watkins SC, Partridge TA (1990) Somatic reversion/suppression of the mouse mdx phenotype in vivo. J Neurol Sci 99:9-25
36. Hoffmann EP, Brown RH, Kunkel LM (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919-928
37. Kakulas BA (1997) Problems and potential for gene therapy in Duchenne muscular dystrophy. Neuromusc Disord 7:319-324
38. Li M, Dickson DW, Spiro AJ (1997) Abnormal expression of laminin beta 1 chain in skeletal muscle of adult- onset limb-girdle muscular dystrophy. Arch Neurol 54:1457-1461
39. Lochmuller H, Petrof BJ, Pari G, Larochelle N, Dodelet V, Wang Q, Allen C, Prescott S, Massie B, Nalbantoglu J, Karpati G (1996) Transient immunosuppression by FK506 permits a sustained high-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscles of adult dystrophic (mdx) mice. Gene Ther 3:706-716
40. Manilal S, Nguyen TM, Sewry CA, Morris GE (1996) The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 5:801-808
41. Manilal S, Sewry CA, Man N, Muntoni F, Morris GE (1997) Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. Neuromusc Disord 7:63-66
42. Matsumura K, Tome FM, Collin H, Azibi K, Chaouch M, Kaplan JC, Fardeau M, Campbell KP (1992) Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 359:320-322
43. Menke A, Jockusch H (1991) Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse. Nature 349:69-71
44. Muntoni F, Melis MA, Ganau A, Dubowitz V (1995) Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet 56:151-157
45. Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K (1996) Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 12:254-259
46. Passaquin AC, Metzinger L, Leger JJ, Warter JM, Poindron P (1993) Prednisolone enhances myogenesis and dystrophin-related protein in skeletal muscle cell cultures from mdx mouse. J Neurosci Res 35:363-372
47. Pegoraro E, Mancias P, Swerdlow SH, Raikow RB, Garcia C, Marks H, Crawford T, Carver V, Di-Cianno B, Hoffman EP (1996) Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol 40:782-791
48. Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al (1995) Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81:27-40
49. Sadoulet-Puccio HM, Kunkel LM (1996) Dystrophin and its isoforms. Brain Pathol 6:25-35
50. Sadoulet-Puccio HM, Rajala M, Kunkel LM (1997) Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Natl Acad Sci U S A 94:12413-12418
51. Salih MA, Sunada Y, Al-Nasser M, Ozo CO, Al-Turaiki MH, Akbar M, Campbell KP (1996) Muscular dystrophy associated with beta-Dystroglycan deficiency. Ann Neurol 40:925-928
52. Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V (1995) Expression of laminin subunits in congenital muscular dystrophy. Neuromuscul Disord 5:307-316
53. Sewry CA, Philpot J, Sorokin LM, Wilson LA, Naom I, Goodwin F, D'Alessandro M, Dubowitz V, Muntoni F (1996) Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy. Lancet 347:582-584
54. Sklar RM, Brown R Jr (1991) Methylprednisolone increases dystrophin levels by inhibiting myotube death during myogenesis of normal human muscle in vitro. J Neurol Sci 101:73-81
55. Sorimachi H, Toyama-Sorimachi N, Saido TC, Kawasaki H, Sugita H, Miyasaka, Arahata K, Ishiura S, Suzuki K (1993) Muscle-specific calpain, p94, is degraded by autolysis immediately after tranlation, resulting in disappearance from muscle. J Biol Chem 268
56. Spencer MJ, Tidball JG, Anderson LV, Bushby KM, Harris JB, Passos-Bueno MR, Somer H, Vainzof M, Zatz M (1997) Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A). J Neurol Sci 146:173-178
57. Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, D'Alessandro M, Muntoni F, Dobowitz V (1997) Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. Neuromusc Disord 7:85-89
58. Taylor J, Muntoni F, Robb S, Dubowitz V, Sewry C (1997) Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1? Neuromusc Disord 7:211-216
59. Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki-M-[corrected-to-Sakai M] et al (1993) Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 5:283-286
60. Tome FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M (1994) Congenital muscular dystrophy with merosin deficiency. C R Acad Sci lii. 317:351-357