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Autor:
M A, Shahrour, O, Staretz-Chacham, D, Dayan, J, Stephen, A, Weech, N, Damseh, H, Pri Chen, S, Edvardson, S, Mazaheri, A, Saada, E, Hershkovitz, A, Shaag, M, Huizing, B, Abu-Libdeh, W A, Gahl, A, Azem, Y, Anikster, T, Vilboux, O, Elpeleg, M C, Malicdan
Publikováno v:
Clin Genet
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 intractable ep