TY  - GEN
AU  - Shahrour,M A
AU  - Staretz-Chacham,O
AU  - Dayan,D
AU  - Stephen,J
AU  - Weech,A
AU  - Damseh,N
AU  - Pri Chen,H
AU  - Edvardson,S
AU  - Mazaheri,S
AU  - Saada,A
AU  - Hershkovitz,E
AU  - Shaag,A
AU  - Huizing,M
AU  - Abu-Libdeh,B
AU  - Gahl,W A
AU  - Azem,A
AU  - Anikster,Y
AU  - Vilboux,T
AU  - Elpeleg,O
AU  - Malicdan,M C
TI  - Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations
SN  - 1399-0004
PY  - 2017///0602
KW  - Adenosine Triphosphatases
KW  - deficiency
KW  - Carrier Proteins
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Epilepsy
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Membrane Proteins
KW  - Membrane Transport Proteins
KW  - Metabolism, Inborn Errors
KW  - Mitochondrial Encephalomyopathies
KW  - Mitochondrial Precursor Protein Import Complex Proteins
KW  - Mitochondrial Proton-Translocating ATPases
KW  - Mutation
KW  - Polymorphism, Single Nucleotide
KW  - Pregnancy
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1111/cge.12855
ER  -