Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Anemia
Share to Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Autopsy

Share to Cardiomyopathy, Dilated

Share to Fatal Outcome

Share to Mitochondrial Membrane Transport Proteins

Share to Urogenital Abnormalities

Source

Identifiers

PMID: 22797137
DOI: 10.1038/pr.2012.92

Genes

DNAJC19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22797137-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.PMID 22797137Read ↗

Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.Semantic proximity Read ↗

Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.Semantic proximity Read ↗

Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein.Semantic proximity Read ↗

Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.Semantic proximity Read ↗

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.Semantic proximity Read ↗

Report of a rare case of congenital mitral valve prolapse with chronic kidney disease--reconsidered genotype-phenotypic correlations.Semantic proximity Read ↗

Mitochondrial mutations in patients with congenital heart defects by next generation sequencing technology.Semantic proximity Read ↗

Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain.Semantic proximity Read ↗

Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature.Semantic proximity Read ↗

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.Semantic proximity Read ↗

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.Semantic proximity Read ↗

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.