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Cone and rod dysfunction in the NARP syndrome

AIMS—Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial DNA (mtDNA).
METHODS—A mother and her two children, all carrying the 8993 mtDNA mutation, were examined. Tw...

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Detalhes bibliográficos
Main Authors: Chowers, I., Lerman-Sagie, T., Elpeleg, O., Shaag, A., Merin, S.
Formato: Artigo
Idioma:Inglês
Publicado em: 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1722923/
https://ncbi.nlm.nih.gov/pubmed/10396197
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