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Article

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

Annals of neurology - 1 Jan 2005

Corbett Mark A, Akkari P Anthony, Domazetovska Ana, Cooper Sandra T, North Kathryn N, Laing Nigel G, Gunning Peter W, Hardeman Edna C

Abstract excerpt

Nemaline myopathy is a human neuromuscular disorder associated with muscle weakness, Z-line accumulations (rods), and myofibrillar disorganization. Disease-causing mutations have been identified in genes encoding muscle thin filament proteins: actin, nebulin, slow troponin T, betaTropomyosin, and alphaTropomyosin(slow). Skeletal muscle expresses three tropomyosin (Tm) isoforms from separate genes:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15562513
DOI: 10.1002/ana.20305

Genes

TPM1
TPM2
TPM3

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.PMID 15562513Read ↗

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.Semantic proximity Read ↗

A mutation in alpha-tropomyosinslow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathySemantic proximity Read ↗

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.Semantic proximity Read ↗

Beta-tropomyosin mutations alter tropomyosin isoform composition.Semantic proximity Read ↗

Skeletal muscle repair in a mouse model of nemaline myopathySemantic proximity Read ↗

A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.Semantic proximity Read ↗

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.Semantic proximity Read ↗

Sorting of a nonmuscle tropomyosin to a novel cytoskeletal compartment in skeletal muscle results in muscular dystrophy.Semantic proximity Read ↗

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.Semantic proximity Read ↗

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.Semantic proximity Read ↗

Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy.Semantic proximity Read ↗

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.Semantic proximity Read ↗

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