Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

A consanguineous Israeli Bedouin kindred presented with an autosomal-recessive nonlethal phenotype of severe psychomotor retardation and extrapyramidal signs, dystonia, athetosis and ataxia, mild axial hypotonia, and marked global dementia with defects in verbal and expressive communication skills....

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Detalhes bibliográficos
Main Authors: Barel, Ortal, Shorer, Zamir, Flusser, Hagit, Ofir, Rivka, Narkis, Ginat, Finer, Gal, Shalev, Hanah, Nasasra, Ahmad, Saada, Ann, Birk, Ohad S.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427202/
https://ncbi.nlm.nih.gov/pubmed/18439546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.03.020
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