Phenotypic variability in siblings with Calpainopathy (LGMD2A)

Calpainopathy is an autosomal-recessive limb girdle muscular dystrophy (LGMD2A) characterized by selective atrophy and weakness of proximal limb girdle muscles. The clinical phenotype of the disease is highly variable inter-familial, but little is known about intra-familial variability. This study r...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Schessl, J, Walter, MC, Schreiber, G, Schara, U, Müller, CR, Lochmüller, H, Bönnemann, CG, Korinthenberg, R, Kirschner, J
Formato: Artigo
Idioma:Inglês
Publicado em: Pacini Editore SpA 2008
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2858935/
https://ncbi.nlm.nih.gov/pubmed/19364062
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados