Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Shahrour, M A

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. [electronic resource] - Clinical genetics May 2017 - 690-696 p. digital

Publication Type: Case Reports; Journal Article

1399-0004

10.1111/cge.12855 doi


Adenosine Triphosphatases--deficiency
Carrier Proteins--genetics
Child
Child, Preschool
Epilepsy--genetics
Female
Humans
Infant
Male
Membrane Proteins--deficiency
Membrane Transport Proteins--genetics
Metabolism, Inborn Errors--genetics
Mitochondrial Encephalomyopathies--genetics
Mitochondrial Precursor Protein Import Complex Proteins
Mitochondrial Proton-Translocating ATPases
Mutation
Polymorphism, Single Nucleotide
Pregnancy