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Article

Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.

Cardiology - 1 Jan 2013

Jay Allison, Chikarmane Rashmi, Poulik Janet, Misra Vinod K

Abstract excerpt

Mutations in genes encoding cardiac sarcomeric proteins are thought to be a very rare cause of hypertrophic cardiomyopathy (HCM) in infants and young children. We report on genetic and histopathological findings in a 3-month-old infant presenting with severe progressive HCM arising from a mutation in the gene encoding the essential light chain of myosin (MYL3). The patient was found to have a novel, paternally...

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Identifiers

PMID: 23594557
DOI: 10.1159/000347138

Genes

MYL3

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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