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Article

Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.

Journal of inherited metabolic disease - 1 Mar 2022

Machiraju Pranav, Degtiarev Vlad, Patel Dhwani, Hazari Hassan, Lowry R Brian, Bedard Tanya, Sinasac David, Brundler Marie-Anne, Greenway Steven C, Khan Aneal

Abstract excerpt

The dilated cardiomyopathy with ataxia syndrome (DCMA) is an autosomal recessive mitochondrial disease caused by mutations in the DnaJ heat shock protein family (Hsp40) member C19 (DNAJC19) gene. DCMA or 3-methylglutaconic aciduria type V is globally rare, but the largest number of patients in the world is found in the Hutterite population of southern Alberta in Canada. We provide an update on phenotypic...

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Identifiers

PMID: 34580891
DOI: 10.1002/jimd.12441

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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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