LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

Blakely, Emma L

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. [electronic resource] - European journal of human genetics : EJHG May 2005 - 623-7 p. digital

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

1018-4813

10.1038/sj.ejhg.5201363 doi


Adult
DNA, Mitochondrial--genetics
Electron Transport Complex I--metabolism
Female
Humans
MELAS Syndrome--complications
NADH Dehydrogenase--genetics
Optic Atrophy, Hereditary, Leber--complications
Pedigree
Point Mutation