Article
Phenotypic variability in siblings with calpainopathy (LGMD2A).
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Oct 2008
Schessl J, Walter M C, Schreiber G, Schara U, Müller C R, Lochmüller H, Bönnemann C G, Korinthenberg R, Kirschner J
Abstract excerpt
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 reports the phenotypic variability in eight sibling pairs with genetically proven LGMD2A. Although siblings with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.