Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing; Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC.
Shahrour MA, et al. Among authors: dayan d.
Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12.
Clin Genet. 2017.
PMID: 27573165
Free PMC article.