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Article

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

Clinical genetics - 1 May 2017

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

Abstract excerpt

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 epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria. We now report on four patients from two unrelated families who presented with severe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27573165
DOI: 10.1111/cge.12855
PMCID: PMC8359539

Genes

TIMM50

Provenance

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