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A nemaline myopathy mutation in α-tropomyosin causes defective regulation of striated muscle force production

Nemaline myopathy (NM) is a rare autosomal dominant skeletal muscle myopathy characterized by severe muscle weakness and the subsequent appearance of nemaline rods within the muscle fibers. Recently, a missense mutation inTPM3, which encodes the slow skeletal α-tropomyosin (αTm), was linked to NM in...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Michele, Daniel E., Albayya, Faris P., Metzger, Joseph M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 1999
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC409864/
https://ncbi.nlm.nih.gov/pubmed/10587521
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