Article
Reducing body myopathy and other FHL1-related muscular disorders.
Seminars in pediatric neurology - 1 Dec 2011
Schessl Joachim, Feldkirchner Sarah, Kubny Christiana, Schoser Benedikt
Abstract excerpt
During the past 2 years, considerable progress in the field of four and a half LIM domain protein 1 (FHL1)-related myopathies has led to the identification of a growing number of FHL1 mutations. This genetic progress has uncovered crucial pathophysiological concepts, thus redefining clinical phenotypes. Important new characterizations include 4 distinct human myopathies: reducing body myopathy, X-linked myopathy...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
