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Article

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

JAMA neurology - 1 Sept 2013

Garone Caterina, Donati Maria Alice, Sacchini Michele, Garcia-Diaz Beatriz, Bruno Claudio, Calvo Sarah, Mootha Vamsi K, Dimauro Salvatore

Abstract excerpt

IMPORTANCE: Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of "MitoExome" sequencing (deep sequencing of the entire mitochondrial genome and the coding exons of >1000 nuclear genes encoding the mitochondrial proteome) allowed us to reveal an unusual clinical variant of complex I deficiency due to a novel homozygous mutation in ACAD9. The patient...

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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: 23836383
DOI: 10.1001/jamaneurol.2013.3197
PMCID: PMC3891824

Genes

ACAD9

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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