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Article

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

EBioMedicine - 1 Apr 2020

Tan Jing, Wagner Matias, Stenton Sarah L, Strom Tim M, Wortmann Saskia B, Prokisch Holger, Meitinger Thomas, Oexle Konrad, Klopstock Thomas

Abstract excerpt

BACKGROUND: Mitochondrial disorders are a group of rare diseases, caused by nuclear or mitochondrial DNA mutations. Their marked clinical and genetic heterogeneity as well as referral and ascertainment biases render phenotype-based prevalence estimations difficult. Here we calculated the lifetime risk of all known autosomal recessive mitochondrial disorders on basis of genetic data. METHODS: We queried the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32305867
DOI: 10.1016/j.ebiom.2020.102730
PMCID: PMC7163308

Genes

ACADM
POLG
SLC22A5
SPG7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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