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Article

MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.

American journal of medical genetics. Part A - 1 Jul 2021

Alsaif Hessa S, Alshehri Ali, Sulaiman Raashda A, Al-Hindi Hindi, Guzmán-Vega Francisco J, Arold Stefan T, Alkuraya Fowzan S

Abstract excerpt

Rhabdomyolysis is a serious medical condition characterized by muscle injury, and there are recognized genetic causes especially in recurrent forms. The majority of these cases, however, remain unexplained. Here, we describe a patient with recurrent rhabdomyolysis in whom extensive clinical testing failed to identify a likely etiology. Whole-exome sequencing revealed a novel missense variant in MYH1, which...

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Identifiers

PMID: 33755318
DOI: 10.1002/ajmg.a.62188

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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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