The limb-girdle muscular dystrophies: Diagnostic guidelines

European Journal of Paediatric Neurology

Volumn 3, Issue 2, 1999, Pages 53-58

  Bushby, K M D ^a,b  

^a NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b Northern Genetics Service   (United Kingdom)

Author keywords

Limb girdle muscular dystrophies

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL EXAMINATION; FAMILY HISTORY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW;

EID: 0032931529     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1090-3798(99)80013-0     Document Type: Review

References (40)

1. Speer MC, Yamaoka LH, Gilchrist JM et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form of chromosome 5q. Am J Hum Genet 1992; 50: 1211-1217.
2. van der Kooi AJ, van Meegen M, Ledderhof TM et al. Genetic localisation of a newly recognised autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet 1997; 60: 891-895.
3. Minetti C, Sotgia F, Bruno C et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genet 1998; 18: 365-368.
4. Richard I, Broux O, Allemand V et al. Mutations in the proteolytic enzyme, calpain 3, cause limb girdle muscular dystrophy type 2A. Cell 1995; 81: 27-40.
5. 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. Nature Genet 1998; 20: 37-42.
6. Noguchi S, McNally EM, Ben Othmane K et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995; 270: 819-822.
7. Roberds S, Leturcq F, Allamand V et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78: 635-633.
8. Lim LE, Duclos F, Broux O et al. β-Sarcoglycan: characterisation and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genet 1995; 11: 257-265.
9. Bonnemann CG, Modi R, Noguchi S et al. β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet 1995; 11: 266-273.
10. Nigro V, Moreira ES, Piluso G et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nature Genet 1996; 14: 195-198.
11. 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.
12. Weiler T, Greenberg CR, Zelinski T, Nylene E, Coghlan G, Crumley MJ et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet 1998; 63: 140-147.
13. Bushby K. Report on the 12th ENMC sponsored international workshop - the 'limb-girdle' muscular dystrophies. Neuromusc Dis 1992; 2: 3-5.
14. Speer MC, Gilchrist JM, Stajich JM et al. Anticipation in autosomal dominant limb-girdle muscular dystrophy (LGMD1A). Am J Hum Genet 1994; 55: A7 (Abstract).
15. Bonne G, Di Barletta MR, Varnous S et al. Genetic localisation of autosomal dominant Emery-Dreifuss muscular dystrophy. Muscle Nerve 1998; (Suppl)S7: S65 (Abstract).
16. van der Kooi AJ, Ledderhof TM, de Voogt WG et al. A newly recognised autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 1996; 39: 636-642.
17. Taylor J, Muntoni F, Robb S et al. Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta-1. Neuromusc Dis 1997;7:211-216.
18. van der Kooi AJ, de Visser M, Barth PG. Limb-girdle muscular dystrophy: reappraisal of a rejected entity. Clin Neurol Neurosurg 1994; 96: 209-218.
19. Piccolo F, Roberds SL, Jeanpierre M et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet 1995; 10: 243-245.
20. Piccolo F, Jeanpierre M, Leturcq F et al. A founder mutation in the y-sarcoglycan gene of Gypsies possibly predating their migration out of India. Human Molec Genet 1996; 5: 2019-2022.
21. Passos-Beuno MR, Vainzof M, Moreira ES, Zatz M. The seven autosomal recessive limb-girdle muscular dystrophies (LGMD) in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Gen 1999 (in press).
22. Vainzof M, Passos-Bueno MR, Canovas M et al. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Human Molec Genet 1996; 5: 1963-1969.
23. Ozawa E, Npguchi S, Mizuno Y et al. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve 1998; 21: 421-438.
24. Jones KJ, Kim SS, North KN. Abnormalities of dystrophin, the sarcoglycans, and laminin α2 in the muscular dystrophies. J Med Genet 1998; 35: 379-386.
25. Bushby K, Anderson LVB, Sewry C et al. Dystrophinopathy or sarcoglycanopathy - the importance of a full diagnostic assessment in suspected manifesting carriers of Duchenne and Becker muscular dystrophy. J Med Genet 1997; 34: S54 (Abstract).
26. Bonnemann CG, Passos-Bueno MR, McNally EM et al. Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E). Human Molec Genet 1996; 5: 1953-1961.
27. Carrie A, Piccolo F, Leturcq F et al. Mutational diversity and hot spots in the α-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 1997; 34: 470-475.
28. Duggan DJ, Gorospe JR, Fanin M et al. Mutations in the sarcoglycan genes in patients with myopathy. New Engl J Med 1997; 336: 618-624.
29. Duggan DJ, Manchester D, Stears KP et al. Mutations in the δ-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics 1997; 1: 49-58.
30. Fanin M, Duggan DJ, Mostacciuolo ML et al. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet 1997; 34: 973-977.
31. Eymard B, Romero NB, Leturcq F et al. Primary adhalinopathy (α-sarcoglycanopathy): clinical, pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997; 48: 1227-1234.
32. Richard I, Brenguier L, Dincer P et al. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet 1997; 60: 1128-1138.
33. Anderson LVB, Davison K, Moss JA et al. Characterisation of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. Am J Pathol 1998; 153: 1169-1179.
34. Fardeau M, Hillaire D, Mignard C et al. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data on a small community living in the Reunion Island. Brain 1996; 119: 295-308.
35. Urtasun M, Saenz A, Roudaut C et al. Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain). Brain 1998; 121: 1735-1747.
36. Dincer P, Leturcq F, Richard I et al. A biochemical, genetic and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Ann Neurol 1997; 42: 222-229.
37. Liu J, Aoki M, Illa I et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nature Genet 1998; 21: 31-36.
38. Mahjneh I, Passos-Bueno MR, Zatz M et al. The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. Neuromusc Dis 1996; 6: 483-490.
39. Pogue R, West S, Bushby K. Multiplex SSCP and heteroduplex analysis with southern hybridisation for large-scale mutation detection: a new technique for the investigation of genetically heterogeneous disease. Genomics 1999; 54: 1-4.
40. Anderson LVB, Davison K. Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 1999 (in press).