Article
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
Neurology - 12 Aug 2003
Palenzuela L, Andreu A L, Gàmez J, Vilà M R, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven P F M, Nygaard T G, Bonilla E, Hirano M
Abstract excerpt
In 2001, the authors described the clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using a genome-wide screen with more than 400 microsatellite markers, the authors identified a novel LGMD disease locus at chromosome 7q32.1-32.2. Within this chromosomal region, filamin C, a gene encoding actin binding protein highly expressed in muscle, was an obvious...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.