A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

Annals of Neurology

Volumn 42, Issue 2, 1997, Pages 222-229

  Dinçer, Pervin ^a   Leturcq, France ^b   Richard, Isabelle ^c   Piccolo, Federica ^b   Yalnizoǧlu, Dilek ^a   De Toma, Claudia ^b   Akçören, Zuhal ^a   Broux, Odile ^c   Deburgrave, Nathalie ^b   Brenguier, Lydie ^c   Roudaut, Carinne ^c   Urtizberea, J Andoni ^d   Jung, Daniel ^e   Tan, Ersin ^a   Jeanpierre, Marc ^b   Campbell, Kevin P ^e   Kaplan, Jean Claude ^b   Beckmann, Jacques S ^c   Topaloǧlu, Haluk ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Université Paris ^*  (France)

^c GÉNÉTHON   (France)

^d AFM   (France)

^e UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 13Q; CHROMOSOME 15Q; CHROMOSOME 17Q; CHROMOSOME 4Q; CHROMOSOME 5Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE ISOLATION; GENE LOCATION; GENE LOCUS; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 15444348850     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410420214     Document Type: Article

References (43)

1. Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain 1954;77:169-231
2. Bushby KMD. Limb-girdle muscular dystrophy. In: Emery AEH, ed. Diagnostic criteria for neuromuscular disorders. Baarn, The Netherlands: European Neuromuscular Centre, 1994:25-31
3. Emery AEH. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromusc Disord 1991;1:19-29
4. Bushby KMD, Beckmann JS. Report on the 30th and 31st ENMC sponsored international workshop. The limb-girdle muscular dystrophies - a proposal for a new nomenclature. Neuromusc Disord 1995;5:337-343
5. Beckmann JS, Richard I, Hillaire D, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci Paris III 1991;312:141-148
6. Richard I, Broux O, Allamand V, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995;81:27-40
7. Bashir R, Strachan T, Keers S, et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994;3:455-457
8. Ben Othmane K, Ben Hamida M, Pericak-Vance MA, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 1992;2:315-317
9. Azibi K, Bachner L, Beckmann JS, et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Mol Genet 1993;2:1423-1428
10. 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
11. Roberds SL, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994;78:625-633
12. Lim LE, Duclos F, Broux O, et al. β-Sarcoglycan: characterisation and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995;11:257-265
13. Bönnemann CG, Modi R, Noguchi S, et al. β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995;11:266-273
14. Passos-Bueno MR, Moreira ES, Vainzof M, et al. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 1996;5:815-820
15. 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. Nat Genet 1996;14:195-198
16. Nigro V, Belsito A, Politano L, et al. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 1996;5:1179-1186
17. Jung D, Leturcq F, Sunada Y, et al. Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Lett 1996;381:15-20
18. Piccolo F, Roberds SL, Jeanpierre M, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 1995;10:243-245
19. Jung D, Duclos F, Apostol B, et al. Characterization of δ-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. J Biol Chem 1996;271:32321-32329
20. Dubowitz V. Report on the 41st ENMC sponsored international workshop on congenital muscular dystrophy. Neuromusc Disord 1996;6:295-306
21. Gardner-Medwin D, Walton JN. The clinical examination of the voluntary muscles. In: Walton JN, ed. Disorders of voluntary muscles. 3rd ed. Edinburgh: Churchill Livingstone, 1974: 517-560
22. Dubowitz V. Muscle disorders in childhood. London: Saunders, 1995:39-45
23. Gyapay G, Morisette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nat Genet 1994;7:246-339
24. Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-154
25. Allamand V, Leturcq F, Piccolo F, et al. Adhalin gene polymorphism. Hum Mol Genet 1994;3:2269
26. Fougerousse F, Broux O, Richard I, et al. Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy. Hum Mol Genet 1994;3:285-293
27. Allamand V, Broux O, Richard I, et al. Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3. Am J Hum Genet 1995;56:1417-1430
28. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;6: 460-465
29. Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987;236:1567-1570
30. Carrié A, Piccolo F, Leturcq F, et al. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 1997 (in press)
31. Keen J, Lester D, Inglehearn C, et al. Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels. Trends Genet 1991;7:5
32. Ad Hoc Committee on Mutation Nomenclature (AHCMN). Update on nomenclature for mutations. Hum Mutat 1996;8: 197-202
33. Beutler E, McKusick VA, Motulsky AG, et al. Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum Mutat 1996;8:203-206
34. Topaloǧlu H, Tan E, Dinçer P, et al. Good clinical observation is essential before molecular studies. Lancet 1995;346:1490 (Abstract)
35. Richard I, Brenguier L, Dinçer P, et al. Multiple independent molecular etiology for LGMD2A patients from various geographical origins. Am J Hum Genet 1997 (in press)
36. Hillaire D, Leclerc A, Faure S, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994;3:1657-1661
37. Beckmann JS, Bushby KMD. Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy. Curr Opin Neurol 1997;9:389-393
38. Jeanpierre M, Carrie A, Piccolo F, et al. From adhalinopathies to alpha-sarcoglycanopathies. Neuromusc Disord 1996;6:463-465
39. McNally EM, Duggan D, Gorospe JR, et al. Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet 1996;5:1841-1847
40. McNally EM, Passos-Bueno MR, Bönnemann CG, et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet 1996;59:1040-1047
41. Bönnemann CG, Passos-Bueno MR, McNally EM, et al. Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E). Hum Mol Genet 1996;5:1953-1961
42. 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;119:295-308
43. Topaloglu H, Kale G, Yalntzoǧlu D, et al. Analysis of "pure" congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebromuscular dystrophy? Neuropediatrics 1994;25:94-100