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Alpers-Huttenlocher syndrome: A review

Alpers-Huttenlocher syndrome is an uncommon mitochondrial disease most often associated with mutations in the mitochondrial DNA replicase, polymerase gamma. Alterations in enzyme activity result in reduced levels and/or deletions within the mitochondrial DNA with phenotypic manifestations occurring...

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Detalhes bibliográficos
Main Authors: Saneto, Russell P., Cohen, Bruce H., Copeland, William C., Naviaux, Robert K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3578656/
https://ncbi.nlm.nih.gov/pubmed/23419467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2012.09.014
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