Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.

Mutations in the human TPM3 gene encoding gamma-tropomyosin (alpha-tropomyosin-slow) expressed in slow skeletal muscle fibers cause nemaline myopathy. Nemaline myopathy is a rare, clinically heterogeneous congenital skeletal muscle disease with associated muscle weakness, characterized by the presen...

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Hauptverfasser: Moraczewska, J, Greenfield, N J, Liu, Y, Hitchcock-DeGregori, S E
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2000
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1301196/
https://ncbi.nlm.nih.gov/pubmed/11106625
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