Fragaki, Konstantina

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation. [electronic resource] - Molecular genetics and metabolism 07 2017 - 224-226 p. digital

Publication Type: Case Reports; Journal Article

1096-7206

10.1016/j.ymgme.2017.05.002 doi


Acyl-CoA Dehydrogenase--genetics
Acyl-CoA Dehydrogenases--blood
Cardiomyopathy, Hypertrophic--genetics
Child
Electron Transport
Electron Transport Complex I--blood
Female
Humans
Infant
Mutation