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Article

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

Brain : a journal of neurology - 1 Jul 2003

Gommans I M P, Davis M, Saar K, Lammens M, Mastaglia F, Lamont P, van Duijnhoven G, ter Laak H J, Reis A, Vogels O J M, Laing N, van Engelen B G M, Kremer H

Abstract excerpt

Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness and the presence of nemaline rods. Five genes have now been associated with nemaline myopathy: alpha-tropomyosin-3 (TPM3), alpha-actin (ACTA1), nebulin (NEB), beta-tropomysin (TPM2) and troponin T (TNNT1). In addition, mutations in the ryanodine receptor gene (RYR1) have been associated with core-rod myopathy. Here we report...

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Share to Myopathies, Nemaline
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12805120
DOI: 10.1093/brain/awg162

Genes

TPM1
ACTA1
NEB
RYR1
TNNT1
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.

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