Fragaki, Konstantina

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy. [electronic resource] - Muscle & nerve 06 2017 - 919-922 p. digital

Publication Type: Case Reports; Journal Article

1097-4598

10.1002/mus.25262 doi


Acyl-CoA Dehydrogenases--genetics
Adult
Consanguinity
DNA Mutational Analysis
DNA, Mitochondrial--genetics
Electron Transport Complex I--genetics
Female
Humans
Muscular Diseases--genetics
Mutation--genetics