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Article

alpha-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells.

Biochimica et biophysica acta - 1 Jul 2009

Vandamme Drieke, Lambert Ellen, Waterschoot Davy, Cognard Christian, Vandekerckhove Joël, Ampe Christophe, Constantin Bruno, Rommelaere Heidi

Abstract excerpt

Nemaline myopathy is a neuromuscular disorder, characterized by muscle weakness and hypotonia and is, in 20% of the cases, caused by mutations in the gene encoding alpha-skeletal muscle actin, ACTA1. It is a heterogeneous disease with various clinical phenotypes and severities. In patients the ultrastructure of muscle cells is often disturbed by nemaline rods and it is thought this is the cause for muscle...

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Source

Identifiers

PMID: 19393268
DOI: 10.1016/j.bbamcr.2009.04.004

Genes

ACTA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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alpha-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells.PMID 19393268Read ↗

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