Article
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.
Neurology - 1 May 1997
Suomalainen A, Majander A, Wallin M, Setälä K, Kontula K, Leinonen H, Salmi T, Paetau A, Haltia M, Valanne L, Lonnqvist J, Peltonen L, Somer H
Abstract excerpt
Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disease characterized by accumulation of multiple large deletions of mtDNA in patients' tissues. We previously showed that the disease is genetically heterogeneous by assigning two nuclear loci predisposing to mtDN...
Topics
- Adult
- DNA, Mitochondrial
- Disease Progression
- Female
- Gene Deletion
- Genes, Dominant
- Humans
- Male
- Middle Aged
- Muscles
- Mutation
- Ophthalmoplegia
- Pedigree