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Article

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

Neuromuscular disorders : NMD - 1 Aug 2016

Brand Patricio, Dyck P James B, Liu Jie, Berini Sarah, Selcen Duygu, Milone Margherita

Abstract excerpt

TIA1 mutations cause Welander distal myopathy. MYH7 mutations result in various clinical phenotypes, including Laing distal myopathy and cardiomyopathy. We describe a family with coexisting TIA1 and MYH7 variants. The proband is a 67-year-old woman with easy tripping since childhood and progressive asymmetric distal limb weakness, but no cardiac involvement. Muscle biopsy showed rare rimmed vacuoles,...

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Source

Identifiers

PMID: 27282841
DOI: 10.1016/j.nmd.2016.05.012

Genes

MYH7
TIA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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