Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.

Autoria(s): Beckmann J.S.; Richard I.; Broux O.; Fougerousse F.; Allamand V.; Chiannilkulchai N.; Lim L.E.; Duclos F.; Bourg N.; Brenguier L.; Pasturaud P.; Quétier F.; Roudaut C.; Sunada Y.; Meyer J.; Dinçer P.; Lefranc G.; Merlini L.; Topaloglu H.; Tomé F.M.; Cohen D.; Jackson C.E.; Campbell K.P.; Fardeau M.
Data(s)

1996
Resumo

The autosomal recessive forms of limb-girdle muscular dystrophies are encoded by at least five distinct genes. The work performed towards the identification of two of these is summarized in this report. This success illustrates the growing importance of genetics in modern nosology.
Identificador

http://serval.unil.ch/?id=serval:BIB_A80901E3F052

isbn:0960-8966

pmid:9027855

doi:10.1016/S0960-8966(96)00386-0

isiid:A1996WD96800009
Idioma(s)

en
Fonte

Neuromuscular disorders : NMD, vol. 6, no. 6, pp. 455-62
Palavras-Chave #Animals; Calpain; Chromosome Mapping; Chromosomes, Human, Pair 15; Cloning, Molecular; Cytoskeletal Proteins; Disease Progression; Dystroglycans; Genes, Recessive; Genetic Heterogeneity; Humans; Membrane Glycoproteins; Mice; Muscles; Muscular Dystrophies; Organ Specificity
Tipo

info:eu-repo/semantics/article

article
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