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Article

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

Journal of inherited metabolic disease - 1 May 2015

Wortmann Saskia B, Koolen David A, Smeitink Jan A, van den Heuvel Lambert, Rodenburg Richard J

Abstract excerpt

Mitochondrial disorders are characterized by a broad clinical spectrum. Identical clinical signs and symptoms can be caused by mutations in different mitochondrial or nuclear genes. Vice versa, the same mutation can lead to different phenotypes. Genetic syndromes and neuromuscular disorders mimicking mitochondrial disorders further complicate the diagnostic process. Whole exome sequencing (WES) is the state of...

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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: 25735936
DOI: 10.1007/s10545-015-9823-y
PMCID: PMC4432107

Genes

ACTA1
MTFMT
SETBP1
TUFM

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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