Article
NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.
Acta neuropathologica - 1 Jun 2006
Rojo A, Campos Y, Sánchez J M, Bonaventura I, Aguilar M, García A, González L, Rey M J, Arenas J, Olivé M, Ferrer I
Abstract excerpt
The 8993 T>G mutation in mitochondrial DNA has been associated with variable syndromes of differing severity ranging from maternally inherited Leigh's syndrome (MILS) to neuropathy, ataxia, retinitis pigmentosa (NARP), depending on the mutation loads in affected patients. We report a kindred with several members in the same generation suffering NARP or Leigh's syndrome due to a 8993 T>G mutation. Post-mortem...
Topics
- Adenosine Triphosphatases
- Ataxia
- Atrophy
- Brain
- Cerebellar Diseases
- DNA, Mitochondrial
- Humans
- Leigh Disease
- Magnetic Resonance Imaging
- Male
- Middle Aged