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Article

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.

Neuromuscular disorders : NMD - 1 Dec 1999

Tan P, Briner J, Boltshauser E, Davis M R, Wilton S D, North K, Wallgren-Pettersson C, Laing N G

Abstract excerpt

The nemaline myopathies are muscle disorders of variable severity and age of onset, with characteristic nemaline bodies in the sarcoplasm. Genes for dominant (NEM1) and recessive (NEM2A) nemaline myopathy have been localised to chromosomes one and two, respectively. A missense mutation in the alpha-tropomyosin gene (TPM3) has been associated with NEM1 in one family. Probands from 76 other nemaline myopathy...

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Source

Identifiers

PMID: 10619715
DOI: 10.1016/s0960-8966(99)00053-x

Genes

TPM3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.PMID 10619715Read ↗

Mutations of the slow muscle α-tropomyosin gene, <i>TPM3</i> , are a rare cause of nemaline myopathySemantic proximity Read ↗

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TNNT1 nemaline myopathy: natural history and therapeutic frontier.Semantic proximity Read ↗

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A new phenotype of autosomal dominant nemaline myopathy.Semantic proximity Read ↗

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A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.Semantic proximity Read ↗

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