Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA.

doi:10.1016/0925-4439(95)00063-a

Back to search

Article

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA.

Biochimica et biophysica acta - 9 Jun 1995

Houstĕk J, Klement P, Hermanská J, Houstková H, Hansíková H, Van den Bogert C, Zeman J

Abstract excerpt

A family is described with a T-->G mutation at position 8993 of mtDNA. This mutation is located in the ATPase 6 gene of mtDNA which encodes subunit a of the ATP-synthase complex (FlFo-ATPase). Clinically, the patients showed severe infantile lactate acidosis and encephalomyopathy in a form that w...

Topics

Acidosis, Lactic
Child
DNA, Mitochondrial
Humans
Infant
Male
Mitochondria
Mitochondria, Heart
Mutation
Pedigree
Proton-Translocating ATPases

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.