A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

1993 • 1,173 citations

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

1990 • 981 citations

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

1992 • 476 citations

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows.

1982 • 370 citations

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1993 • 259 citations

Diagnoses of neuronal ceroid‐lipofuscinosis by immunochemical methods

1995 • 255 citations

Length heteroplasmy in the first hypervariable segment of the human mtDNA control region.

1995 • 239 citations

Rapid segregation of heteroplasmic bovine mitodiondria

1989 • 235 citations

Replacement of bovine mitochondrial DNA by a sequence variant within one generation.

1991 • 178 citations

Subacute necrotizing encephalopathy

1992 • 154 citations

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

1992 • 134 citations

Maternally inherited Leigh syndrome

1993 • 95 citations

The 8993 mtDNA Mutation: Heteroplasmy and Clinical Presentation in Three Families

1994 • 64 citations

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studies

1991 • 45 citations

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

1995 • 40 citations

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leight syndrome (MILS) associated with the mtDNA T8993G point mutation

1995 • 21 citations