Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies
β Scribed by K. Inui; H. Tsukamoto; H. Fukushima; M. Taniike; J. Tanaka; T. Nishigaki; S. Okada
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 233 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract ## Objective We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland. ## Methods Children with diagnoses commonly associated with mitochondrial diseases were ascertained. Blo
We describe a family which demonstrates and expands the extreme clinical variabilty now known to be associated with the A+G transition at nucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including a