Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies.

doi:10.1007/s001090000161

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Article

Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies.

Journal of molecular medicine (Berlin, Germany) - 1 Jan 2000

Michele D E, Metzger J M

Abstract excerpt

Mutations have been identified in alpha-tropomyosin (Tm), a key regulatory protein in striated muscle cells, that are associated with a human cardiac myopathy, hypertrophic cardiomyopathy (FHC) and a human skeletal myopathy, nemaline myopathy (NM). In this review, we highlight experiments aimed at identifying the underlying mechanisms by which mutations in alpha-Tm cause inherited diseases of cardiac and skeletal...

Topics

Amino Acid Sequence
Animals
Cardiomyopathy, Hypertrophic
Humans
Mice
Molecular Sequence Data
Mutation
Myocardial Contraction
Myopathies, Nemaline
Tropomyosin

Source

Open in PubMed

Identifiers

PMID: 11199327
DOI: 10.1007/s001090000161

Provenance

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

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