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Article

A myopathy-related actin mutation increases contractile function.

Acta neuropathologica - 1 May 2012

Lindqvist Johan, Pénisson-Besnier Isabelle, Iwamoto Hiroyuki, Li Meishan, Yagi Naoto, Ochala Julien

Abstract excerpt

Nemaline myopathy (NM) is the most common congenital myopathy and is caused by mutations in various genes including NEB (nebulin), TPM2 (beta-tropomyosin), TPM3 (gamma-tropomyosin), and ACTA1 (skeletal alpha-actin). 20-25% of NM cases carry ACTA1 defects and these particular mutations usually induce substitutions of single residues in the actin protein. Despite increasing clinical and scientific interest, the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22358459
DOI: 10.1007/s00401-012-0962-z

Genes

ACTA1
NEB
TPM2
TPM3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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