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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...

Read the complete abstract on PubMed

Topics

Adult
Biopsy
Cardiac Myosins
Cardiomyopathies
Distal Myopathies
Electromyography
Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Genetic Association Studies

Humans

Male

Middle Aged

Muscle, Skeletal

Mutation

Myosin Heavy Chains

Phenotype

Source

Identifiers

PMID: 25695922
DOI: 10.1097/CND.0000000000000069

Genes

MYH7

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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