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Article

Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.

Journal of clinical pathology - 1 Jan 2022

Meldau Surita, Owen Elizabeth Patricia, Khan Kashief, Riordan Gillian Tracy

Abstract excerpt

AIMS: Mitochondrial diseases form one of the largest groups of inborn errors of metabolism. The birth prevalence is approximately 1/5000 in well-studied populations, but little has been reported from Sub-Saharan Africa. The aim of this study was to describe the genetics underlying mitochondrial disease in South Africa. METHODS: An audit was performed on all mitochondrial disease genetic testing performed in Cape...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 33115810
DOI: 10.1136/jclinpath-2020-207026

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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