Article
Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.
The Journal of biological chemistry - 11 Jul 2003
Jin Jian-Ping, Brotto Marco A, Hossain M Moazzem, Huang Qi-Quan, Brotto Leticia S, Nosek Thomas M, Morton D Holmes, Crawford Thomas O
Abstract excerpt
A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene. We found that neither the intact nor the truncated slow TnT protein was present in the muscle of patients with ANM. The complete loss of slow TnT is consistent with the observed recessive pattern of inheritance of the disease and indicates a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.