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

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

Molecular Genetics and Metabolism（2017）

引用 9|浏览10

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摘要

Patients carrying Acyl-CoA dehydrogenase 9 (ACAD9) mutations reported to date mainly present with severe hypertrophic cardiomyopathy and isolated complex I (CI) dysfunction.

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关键词

ACAD9,ATP5A,BN-PAGE,CI,CII,CIII,CIV,COX,CS,CV,FAO,GRIM-19,MTCO1,mtDNA,NDUFS3,PVDF,SDHA,UQCRC2

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