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