Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

A female infant showing lacticacidemia, hypotonia, and neurodegenerative disease died at 7 mo of age. Autopsy revealed lesions typical of Leigh disease, both in the basal ganglia and in the brain stem. A maternal aunt and uncle died 1 year and 5 mo, respectively, after following a similar clinical c...

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Detalhes bibliográficos
Main Authors: Tatuch, Y, Christodoulou, J, Feigenbaum, A, Clarke, J T, Wherret, J, Smith, C, Rudd, N, Petrova-Benedict, R, Robinson, B H
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682643/
https://ncbi.nlm.nih.gov/pubmed/1550128
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