SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

Recessive mutations in the mitochondrial copper-binding protein SCO2, cytochrome c oxidase (COX) assembly protein, have been reported in several cases with fatal infantile cardioencephalomyopathy with COX deficiency. Significantly expanding the known phenotypic spectrum, we identified compound heter...

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Dades bibliogràfiques
Publicat a:Brain
Autors principals: Rebelo, Adriana P, Saade, Dimah, Pereira, Claudia V, Farooq, Amjad, Huff, Tyler C, Abreu, Lisa, Moraes, Carlos T, Mnatsakanova, Diana, Mathews, Kathy, Yang, Hua, Schon, Eric A, Zuchner, Stephan, Shy, Michael E
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2018
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5837310/
https://ncbi.nlm.nih.gov/pubmed/29351582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awx369
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