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Article

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

BMC medical genetics - 2 Jul 2013

McLaughlin Heather M, Kelly Melissa A, Hawley Pamela P, Darras Basil T, Funke Birgit, Picker Jonathan

Abstract excerpt

BACKGROUND: Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy. To date, only ~50 disease-associated variants have been described, and the majority of these lead to dominant-negative effects. However, the complete genotypic spectrum of desminopathy is not well established. CASE...

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Identifiers

PMID: 23815709
DOI: 10.1186/1471-2350-14-68
PMCID: PMC3711885

Genes

DES

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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