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Article

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.

BMC medical genetics - 11 Nov 2013

DaRe Jeana T, Vasta Valeria, Penn John, Tran Nguyen-Thao B, Hahn Si Houn

Abstract excerpt

BACKGROUND: Mitochondrial disorders are difficult to diagnose due to extreme genetic and phenotypic heterogeneities. METHODS: We explored the utility of targeted next-generation sequencing for the diagnosis of mitochondrial disorders in 148 patients submitted for clinical testing. A panel of 447 nuclear genes encoding mitochondrial respiratory chain complexes, and other genes inducing secondary mitochondrial...

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Identifiers

PMID: 24215330
DOI: 10.1186/1471-2350-14-118
PMCID: PMC3827825

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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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