Article
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").
Neurology - 1 Jun 1993
Silvestri G, Ciafaloni E, Santorelli F M, Shanske S, Servidei S, Graf W D, Sumi M, DiMauro S
Abstract excerpt
We looked for the A-->G transition at position 8344 of mtDNA in 150 patients, most of them with diagnosed or suspected mitochondrial disease, to assess the specificity of this mutation for the MERRF phenotype, to define the clinical spectrum associated with the mutation, and to study the relation...
Topics
- Adult
- Base Sequence
- Brain Diseases, Metabolic
- Citrate (si)-Synthase
- DNA, Mitochondrial
- Epilepsies, Myoclonic
- Female
- Humans
- Leigh Disease
- MERRF Syndrome
- Male
- Middle Aged
- Mitochondrial Myopathies
- Molecular Sequence Data
- Muscles
- Ophthalmoplegia, Chronic Progressive External
- Pedigree
- Phenotype