Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Ian Holt, A. E. Harding, Richard Petty et al. · PubMed · 1990 · 1K citations

Life Sciences, Genetics, Molecular Genetics +14

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT

Denis Leigh · Journal of Neurology Neurosurgery & Psychiatry · 1951 · 788 citations · Full text

Medicine, Neurology, Pediatrics +8

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

Y. Tatuch, John Christodoulou, Annette Feigenbaum et al. · PubMed · 1992 · 485 citations

Life Sciences, Genetics, Molecular Genetics +9

Cytochrome <i>c</i> oxidase deficiency in leigh syndrome

Salvatore DiMauro, Serenella Servidei, Massimo Zeviani et al. · Annals of Neurology · 1987 · 363 citations

Life Sciences, Biochemistry, Pathology +14

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

D. Daniëlle de Vries, Baziel G.M. van Engelen, F.J.M. Gabreëls et al. · Annals of Neurology · 1993 · 262 citations

Life Sciences, Genetics, Molecular Genetics +17