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Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

We have reinvestigated a young woman, originally reported by us in 1983, who presented with exercise intolerance and lactic acidosis associated with severe deficiency of complex III and who responded to therapy with menadione and ascorbate. Gradually, she developed symptoms of a mitochondrial enceph...

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Detalhes bibliográficos
Principais autores: Keightley, J. Andrew, Anitori, Roberto, Burton, Miriam D., Quan, Franklin, Buist, Neil R. M., Kennaway, Nancy G.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287917/
https://ncbi.nlm.nih.gov/pubmed/11047755
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