Article
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.
Brain : a journal of neurology - 1 Jun 1993
Hammans S R, Sweeney M G, Brockington M, Lennox G G, Lawton N F, Kennedy C R, Morgan-Hughes J A, Harding A E
Abstract excerpt
The mitochondrial DNA (mtDNA) transfer RNA (tRNA)Lys A-->G(8344) mutation was identified in seven patients. These patients and their relatives were assessed clinically; in one family the mutation was deduced to be present in four generations. The phenotype in index cases was consistent with the s...
Topics
- Adult
- Aged
- Amino Acid Sequence
- Child
- DNA, Mitochondrial
- Female
- Humans
- MERRF Syndrome
- Male
- Middle Aged
- Molecular Sequence Data
- Muscles