Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. [electronic resource]
Producer: 20170602Description: 690-696 p. digitalISSN:- 1399-0004
- 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
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Publication Type: Case Reports; Journal Article
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