FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

In two siblings we found a mitochondrial encephalomyopathy, characterized by developmental delay, hemiplegia, convulsions, asymmetrical brain atrophy, and low cytochrome c oxidase (COX) activity in skeletal muscle. The disease locus was identified on chromosome 2 by homozygosity mapping; candidate g...

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Detalhes bibliográficos
Main Authors: Ghezzi, Daniele, Saada, Ann, D'Adamo, Pio, Fernandez-Vizarra, Erika, Gasparini, Paolo, Tiranti, Valeria, Elpeleg, Orly, Zeviani, Massimo
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2556431/
https://ncbi.nlm.nih.gov/pubmed/18771761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.08.009
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