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Article

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

Molecular genetics and metabolism - 1 Jul 2017

Fragaki Konstantina, Chaussenot Annabelle, Boutron Audrey, Bannwarth Sylvie, Rouzier Cecile, Chabrol Brigitte, Paquis-Flucklinger Veronique

Abstract excerpt

Patients carrying Acyl-CoA dehydrogenase 9 (ACAD9) mutations reported to date mainly present with severe hypertrophic cardiomyopathy and isolated complex I (CI) dysfunction. Here we report a novel ACAD9 mutation in a young girl presenting with severe hypertrophic cardiomyopathy, isolated CI deficiency and interestingly multiple respiratory chain complexes assembly defects. We show that ACAD9 analysis has to be...

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Source

Identifiers

PMID: 28529009
DOI: 10.1016/j.ymgme.2017.05.002

Genes

ACAD9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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