Limb-girdle muscular dystrophy

Current Neurology and Neuroscience Reports

Volumn 3, Issue 1, 2003, Pages 78-85

  Mathews, Katherine D ^a   Moore, Steven A ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; CAVEOLIN 3; COLLAGEN TYPE 6; DYSFERLIN; DYSTROPHIN; LAMIN A; LAMIN C; SARCOGLYCAN; MUSCLE PROTEIN;

ALLELE; CHROMOSOME 13Q; CHROMOSOME 15Q; CHROMOSOME 17Q; CHROMOSOME 19Q; CHROMOSOME 1Q; CHROMOSOME 2P; CHROMOSOME 3P; CHROMOSOME 4Q; CHROMOSOME 5Q; CHROMOSOME 9Q; CHROMOSOME XP; CLINICAL FEATURE; DISEASE CLASSIFICATION; DUCHENNE MUSCULAR DYSTROPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE DELETION; GENE DUPLICATION; GENE LOCATION; GENE MUTATION; GENETIC SCREENING; HUMAN; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCULAR DYSTROPHY; PATHOGENESIS; PHENOTYPE; POINT MUTATION; REVIEW; TURNER SYNDROME; WESTERN BLOTTING; ECHOGRAPHY; GENETICS; METABOLISM; ONSET AGE; PATHOLOGY; SKELETAL MUSCLE;

AGE OF ONSET; DYSTROPHIN; HUMANS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES;

EID: 0042078933     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-003-0042-9     Document Type: Review

References (49)

1. Arikawa E, Hoffman EP, Kaido M, et al.: The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991, 41:1491-1496.
2. Wickland MP, Moore SA, Campbell KP, Mathews K, Wall C, Shilling C, King N, King W, Serrano C, Kissel JT, Fenichel GM, et al.: Molecular and clinical characterization of individuals with limb-girdle muscular dystrophy. American Academy of Neurology Meeting, Philadelphia; 2001.
3. Fanin M, Pegoraro E, Matsuda-Asada C, Brown RH Jr, Angelini C: Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology 2001, 56:660-665.
4. Mendell JR, Buzin CH, Feng J, et al.: Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 2001, 57:645-650.
5. Hauser MA, Horrigan SK, Salmikangas P, et al.: Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000, 9:2141-2147.
6. Sakaki M, Koike H, Takahashi N, et al.: Interaction between emerin and nuclear lamins. J Biochem (Tokyo). 2001, 129:321-327.
7. Kitaguchi T, Matsubara S, Sato M, et al.: A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromusc Disord 2001, 11:542-546.
8. Muchir A, Bonne G, van der Kooi AJ, et al.: Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD 1B). Hum Mol Genet 2000, 9:1453-1459.
9. Galbiati F, Razani B, Lisanti MP: Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med 2001, 7:435-441.
10. McNally EM, de Sa Moreira E, Duggan DJ, et al.: Caveolin-3 in muscular dystrophy. Hum Mol Genet 1998, 7:871-877.
11. Herrmann R, Straub V, Blank M, et al.: Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet 2000, 9:2335-2240.
12. Betz RC, Schoser BC, Kasper D, et al.: Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001, 28:218-219.
13. Baghdiguian S, Richard I, Martin M, et al.: Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. J Mol Med 2001, 79:254-261.
14. Fardeau M, Hillaire D, Mignard C, et al.: Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996, 119(Pt 1):295-308.
15. Richard I, Roudaut C, Saenz A, et al.: Calpainopathy - a survey of mutations and polymorphisms. Am J Hum Genet 1999, 64:1524-1540.
16. Talim B, Ognibene A, Mattioli E, et al.: Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A. Neurology 2001, 56:692-693.
17. Liu J, Aoki M, Illa I, et al.: Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998, 20:31-36.
18. Matsuda C, Aoki M, Hayashi YK, et al.: Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 1999, 53:1119-1122.
19. Bashir R, Britton S, Strachan T, et al.: A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998, 20:37-42.
20. Bejaoui K, Hirabayashi K, Hentati F, et al.: Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology 1995, 45:768-772.
21. Illa I, SeFrano-Munuera C, Gallardo E, et al.: Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001, 49:130-134.
22. Weiler T, Greenberg CR, Nylen E, et al.: Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 1996, 59:872-878.
23. Weiler T, Bashir R, Anderson EV, et al.: Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 1999, 8:871-877.
24. Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, et al.: Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 2000, 55:1931-1933.
25. Piccolo F, Moore SA, Ford GC, Campbell KP: Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 2000, 48:902-912.
26. Matsuda C, Hayashi YK, Ogawa M, et al.: The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001, 10:1761-1766.
27. Selcen D, Stilling G, Engel AG: The earliest pathologic alterations in dysferlinopathy. Neurology 2001, 56:1472-1481.
28. Vainzof M, Passos-Bueno MR, Canovas M, et al.: The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet 1996, 5:1963-1969.
29. Hack AA, Lam MY, Cordier L, et al.: Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci 2000, 113(Pt 14):2535-2544.
30. Politano L, Nigro V, Passamano L, et al.: Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromusc Disord 2001, 11:178-185.
31. Gnecchi-Ruscone T, Taylor J, Mercuri E, et al.: Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction? Muscle Nerve 1999, 22:1549-1556.
32. Cohn RD, Durbeej M, Moore SA, et al.: Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex. J Clin Invest 2001, 107:R1 -R7.
33. Moreira ES, Vainzof M, Marie SK, et al.: The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet 1997, 61:151-159.
34. Moreira ES, Wiltshire TJ, Faulkner G, et al.: Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000, 24:163-166.
35. Frosk P, Weiler T, Nylen E, et al.: Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 2002, 70:663-672.
36. Weiler T, Greenberg CR, Zelinski T, et al.: A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet 1998, 63:140-147.
37. Michele DE, Barresi R, Kanagawa M, et al.: Post-translational disruption of dystroglycan-ligand interactions ip congenital muscular dystrophies. Nature 2002, 418:417-422.
38. Brockington M, Blake DJ, Prandini P, et al.: Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal gilycosylation of alpha-dystroglycan. Am J Hum Genet 2001, 69:1198-1209.
39. Brockington M, Yuva Y, Prandini P, et al.: Mutations in the fukutin-related protein gene (FKRP) identity limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDDC1C Hum Mol Genet 2001, 10:2851-2859.
40. Haravouri H, Vihola A, Straub V, et al.: Secondary calpain3 deficiency in 2q-linked muscular dystrophy. Titin is the candidate gene. Neurology 2001, 56:869-877.
41. Hackman P, Vihola A, Haravouri H, et al.:Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002, 71: 492-500.
42. Gerull B, Gramlich M, Atherton J, et al.:Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.Nat Genet 2002, 30:201-204.
43. Jones KJ, Morgan C, Johnston H, et al.: The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet 2001, 38:649-657.
44. Mohire M, Tandan R, Fries T, et al.: Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). Neurology 1988, 38:573-580.
45. Higuchi I, Shiraishi T, Hashiguchi T, et al.: Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann Neurol 2001, 50:261-265.
46. Jobsis GJ, Keizers H, Vreijling JP, et al.:Type VI Collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 1996, 14:113 -115.
47. Camacho Vanegas O, Bertini F, Zhang RZ, et al.: Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in coliagen type VI. Proc Natl Acad Sci U S A 2001, 98: 7516-7521.
48. Ho M, Gallardo E, McKenna-Yasek D, et al.: A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy. Ann Neurol 2002, 51:129-133.
49. Mora M, Cartegni L, Di Blasi C, et al.: X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. Ann Neurol 1997, 42:249-253.