Alec A. Weech
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Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><span>TIMM50</span></i> mutations Open
Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser , in the TIMM50 gene, was reported in an abstract form, in three sibs who suffered from in…