Beta-sarcoglycan gene mutations in Turkey

Acta Myologica

Volumn 23, Issue 3, 2004, Pages 154-158

  Balci, B ^a   Wilichowski, E ^b   Haliloglu G ^c   Talim, B ^c   Aurino, S ^d   Kremer, E ^b   Ebinger, F ^e   Senbil N ^f   Anlar, B ^c   Kale, G ^c   Nigro, V ^d   Topaloglu H ^c   Bonnemann, C ^b,c,d,e,f,g   Dinçer, Pervin ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c Department of Paediatric Neurology ^*  (Turkey)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

^e UNIVERSITY OF HEIDELBERG   (Germany)

^f DR SAMI ULUS CHILDREN S HOSPITAL   (Turkey)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

SG; LGMD2; Novel mutations

Indexed keywords

ALPHA SARCOGLYCAN; BETA SARCOGLYCAN; DELTA SARCOGLYCAN; DNA; DYSTROPHIN; GAMMA SARCOGLYCAN; GLYCOPROTEIN; SARCOGLYCAN; SPECTRIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC LINKAGE; HIP; HUMAN; IMMUNOFLUORESCENCE; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUSCLE BIOPSY; NULL ALLELE; PHENOTYPE; POLYMERASE CHAIN REACTION; SARCOGLYCANOPATHY; SHOULDER GIRDLE; TURKEY (REPUBLIC); WESTERN BLOTTING;

ADOLESCENT; ADULT; CHILD; COHORT STUDIES; EXONS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE; SARCOGLYCANS; SEVERITY OF ILLNESS INDEX; TURKEY;

EID: 20244370066     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Bushby KMD. The limb-girdle muscular dystrophies: multiple genes, multiple mechanisms. Hum Mol Genet 1999;8:1875-82.
2. Nigro V. Molecular bases of autosomal recessive limb-girdle muscular dystrophies. Acta Myol 2003;22:35-42.
3. st ENMC International Workshop - the limb girdle muscular dystrophies and proposal for a new nomenclature. Neuromuscul Disord 1995;5:337-44.
4. Roberts SL, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994;78:625-33.
5. Lim LE, Duclos F, Allamand V, et al. β-Sarcoglycan (43 DAG): characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12. Nat Genet 1995;11:257-65.
6. Bonnemann 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;1:266-73.
7. Noguchi S, McNally EM, Ben Othmane K, et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995;270:819-22.
8. Nigro V, Moreira ES, Piluso G, et al. The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD2F) is caused by a mutation in the δ-sarcoglycan gene. Nat Genet 1996;5:1179-86.
9. Angelini C, Fanin M, Freda MP, et al. The clinical spectrum of sarcoglycanopathies. Neurology 1999;52:176-9.
10. Chan YM, Bonnemann CG, Lidov HG, et al. Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol 1998;143:2033-44.
11. Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med 1997;336:618-24.
12. Dinçer 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;42:222-9.
13. Dinçer P, Akçören Z, Demir E, et al. A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families. J Med Genet 2000;37:361-7.
14. Richard I, Bourg N, Marchand S, et al. A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies. Neuromuscul Disord 1999;9:555-63.
15. Bonnemann 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 (LGMD 2E). Hum Mol Genet 1996;5:1953-61.
16. Zats M, Vainzof M, Passos-Bueno MR, et al. Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes. Curr Opin Neurol 2000;13:511-7.
17. Passos-Bueno MR, Vainzof M, Morerira ES, Zats M. The seven autosomal recessive limb-girdle muscular dystrophy (LGMD): from LGMD2A to LGMD2G. Am J Med Genet 1999;82:392-8.
18. McNally E, Passos-Bueno MR, Bonnemann C, et al. Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet 1996;59:1040-7.
19. Zatz M, de Paula F, Starling A, Vainzof M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 2003;13:532-44.
20. Duclos F, Broux O, Bourg N, et al. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Aminish isolate. Neuromuscul Disord 1998;8:30-8.
21. Shi W, Chen Z, Schottenfeld J, et al. Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. Muscle Nerve 2004;29:409-19.
22. Bonnemann CG, Wong J, Ben Hamida C, et al. LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. Neuromuscul Disord 1998;8:193-7.
23. Melacini P, Fanin M, Duggan DJ, et al. Heart involvement in muscular dystrophies due to sarcoglycan gene mutations. Muscle Nerve 1999;22:473-9.