Article
Linkage of hereditary distal myopathy with desmin accumulation to 2q.
Human heredity - 1 Jan 2000
Saavedra-Matiz C A, Chapman N H, Wijsman E M, Horowitz S H, Rosen D R
Abstract excerpt
We are investigating the genetics of a large family with an autosomal dominant form of hereditary distal myopathy. This slowly progressive myopathy begins during early adulthood in the distal leg muscles, producing a gait disturbance. Cardiomyopathy is also present in most affected family members, manifesting itself as conduction block or congestive heart failure. Histologically, an accumulation of the protein,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.