Article
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.
American journal of human genetics - 1 May 1995
Hanna M G, Nelson I, Sweeney M G, Cooper J M, Watkins P J, Morgan-Hughes J A, Harding A E
Abstract excerpt
We report the clinical, biochemical, and molecular genetic findings in a family with an unusual mitochondrial disease phenotype harboring a novel mtDNA tRNA glutamic acid mutation at position 14709. The proband and his sister presented with congenital myopathy and mental retardation and subsequen...
Topics
- Adult
- Aged
- Cells, Cultured
- DNA, Mitochondrial
- Diabetes Complications
- Diabetes Mellitus
- Female
- Fibroblasts
- Humans
- Infant
- Male
- Middle Aged
- Mitochondrial Encephalomyopathies
- Muscles
- Mutation