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

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Bibliographic Details
Title: Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Authors: Shahrour, M.A.1, Staretz‐Chacham, O.2, Dayan, D.3, Stephen, J.4, Weech, A.5, Damseh, N.1, Pri Chen, H.3,4,6, Edvardson, S.7, Mazaheri, S.4, Saada, A.8, Hershkovitz, E.2, Shaag, A.9, Huizing, M.4, Abu‐Libdeh, B.1, Gahl, W.A4,5, Azem, A.3 azema@tauex.tau.ac.il, Anikster, Y.10,11, Vilboux, T.5,12, Elpeleg, O.9 Elpeleg@hadassah.org.il, Malicdan, M.C.4,5
Source: Clinical Genetics. May2017, Vol. 91 Issue 5, p690-696. 8p. 1 Black and White Photograph, 2 Diagrams.
Database: Academic Search Ultimate
Description
ISSN:00099163
DOI:10.1111/cge.12855