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Article

Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants.

European journal of medical genetics - 1 Jun 2022

Choy Nicole, Wang Stephani, Abbona Pablo, Leffler Dale, Kimonis Virginia

Abstract excerpt

Inclusion Body Myopathy, Paget's Disease of Bone, with Frontotemporal Dementia is a progressive autosomal dominant disease that affects the ubiquitin-proteasome complex, that is caused by variants in the Valosin Containing Protein (VCP) gene. We report the first case of concurrent pathogenic variants in both MYBPC3 and VCP that led to earlier onset of congestive heart failure with features of dilated...

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Identifiers

PMID: 35306227
DOI: 10.1016/j.ejmg.2022.104480

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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.

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