Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

Vilarinho, L

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation. [electronic resource] - Journal of inherited metabolic disease Dec 2001 - 883-4 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0141-8955

10.1023/a:1013908728445 doi


Adenosine Triphosphatases--genetics
Adenosine Triphosphate--biosynthesis
Adolescent
Adult
DNA, Mitochondrial--genetics
Energy Metabolism--genetics
Female
Humans
Leigh Disease--enzymology
Male
Membrane Potentials--genetics
Point Mutation