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Fatal Infantile Cardiomyopathy Associated with a Homozygous MYL2 c.413T>A (p.Met138Lys) Variant: A Case Expanding the Recessive MYL2 Phenotypic Spectrum.

Genes - 12 Apr 2026

Uddin Mohammed Shahab, Alnamshan Yasmeen, Shafeen Khaled, Jahan Syeda Nilofer, AlMadhi Nora, Gurumurthy Karthiga, Hassan Abdullah Bin, Esmail Amr, AlQannas Maryam

Abstract excerpt

BACKGROUND/OBJECTIVES: Infantile cardiomyopathy is a rare but often life-threatening condition in which monogenic causes are particularly relevant, especially when cardiac disease is preceded by hypotonia or multisystem involvement. Among sarcomeric genes, MYL2, encoding the ventricular regulatory myosin light chain, plays a critical role in myocardial contractility. However, biallelic MYL2-associated disease...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42074559
DOI: 10.3390/genes17040441
PMCID: PMC13115972

Genes

MYL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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