Article
[MELAS associated with diabetes mellitus and point mutation in mitochondrial DNA].
No to shinkei = Brain and nerve - 1 Mar 1992
Onishi H, Inoue K, Osaka H, Nagatomo H, Ando N, Yamada Y, Suzuki K, Hanihara T, Kawamoto S, Okuda K
Abstract excerpt
Point mutation of mitochondrial DNA has been described in the blood from a MELAS patient. The 39-year-old patient developed progressive dementia, stroke-like episodes, heart conduction defect (Lown-Ganong-Levin syndrome) and cortical blindness. CT scan revealed brain atrophy and low density areas in the bilateral occipital lobes. Laboratory tests showed hyperglycemia and lactic acidosis. Muscle biopsy showed...
Topics
- Adult
- DNA, Mitochondrial
- Diabetes Mellitus, Type 1
- Epilepsies, Myoclonic
- Humans
- Male
- Mitochondria, Muscle
- Muscular Diseases
- Mutation
- Polymerase Chain Reaction