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Article

Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.

Journal of clinical neuromuscular disease - 1 Mar 2015

Naddaf Elie, Waclawik Andrew J

Abstract excerpt

INTRODUCTION: Laing distal myopathy is caused by MYH7 gene mutations. Multiple families have been reported with varying patterns of skeletal and cardiac involvement as well as histopathological findings. CASE SERIES: We report 2 families with p.Glu1508del mutation with detailed electrophysiological and muscle pathology findings. RESULTS: All patients displayed the classic phenotype with weakness starting in the...

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Source

Identifiers

PMID: 25695922
DOI: 10.1097/CND.0000000000000069

Genes

MYH7

Variants

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.PMID 25695922Read ↗

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New phenotype and pathology features in MYH7-related distal myopathy.Semantic proximity Read ↗

A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family.Semantic proximity Read ↗

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.Semantic proximity Read ↗

Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene.Semantic proximity Read ↗

Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.Semantic proximity Read ↗

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Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutationsSemantic proximity Read ↗

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