Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

Background: The limb girdle muscular dystrophies (LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified and genetic tests are mandatory to distinguish among the forms. Mutations a...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Piluso, G, Politano, L, Aurino, S, Fanin, M, Ricci, E, Ventriglia, V, Belsito, A, Totaro, A, Saccone, V, Topaloglu, H, Nascimbeni, A, Fulizio, L, Broccolini, A, Canki-Klain, N, Comi, L, Nigro, G, Angelini, C, Nigro, V
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2005
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736133/
https://ncbi.nlm.nih.gov/pubmed/16141003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.028738
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