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Article

Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

Journal of molecular medicine (Berlin, Germany) - 1 Nov 2008

Ochala Julien

Abstract excerpt

In humans, more than 140 different mutations within seven genes (ACTA1, TPM2, TPM3, TNNI2, TNNT1, TNNT3, and NEB) that encode thin filament proteins (skeletal alpha-actin, beta-tropomyosin, gamma-tropomyosin, fast skeletal muscle troponin I, slow skeletal muscle troponin T, fast skeletal muscle troponin T, and nebulin, respectively) have been identified. These mutations have been linked to muscle weakness and...

Topics

Actins
Animals
Humans
Muscle Contraction
Muscle Proteins
Muscle, Skeletal
Muscular Diseases
Mutation
Troponin T

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 18574571
DOI: 10.1007/s00109-008-0380-9

Genes

ACTA1
NEB
TNNI2
TNNT1
TNNT3
TPM2
TPM3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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