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Article

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.

Pediatric research - 1 Oct 2012

Ojala Tiina, Polinati Padmini, Manninen Tuula, Hiippala Anita, Rajantie Jukka, Karikoski Riitta, Suomalainen Anu, Tyni Tiina

Abstract excerpt

BACKGROUND: We report a new mutation in the human DNAJC19 gene that causes early onset dilated cardiomyopathy syndrome (DCMA). METHODS: Two brothers of Finnish origin presented with an unusual combination of early onset dilated cardiomyopathy syndrome, a disease which was associated with cardiac noncompaction, microcytic anemia, ataxia, male genital anomalies and methylglutaconic aciduria type V. Suspicion of a...

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Source

Identifiers

PMID: 22797137
DOI: 10.1038/pr.2012.92

Genes

DNAJC19

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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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