Giguet-Valard AG

ORCID: 0000-0003-2260-2021 · 1 paper in corpus
case-report 2025
A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene
International journal of molecular sciences ·doi:10.3390/ijms26157128

Acyl-CoA dehydrogenase 9 deficiency is considered as a rare neuromuscular syndrome with an autosomal recessive transmission. The ACAD9 protein presents two essential functions, i.e., the limiting step enzyme of the fatty acid β-oxidation pa…