Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation
✍ Scribed by Katalin Komlósi; Richárd Kellermayer; Anita Maász; Viktória Havasi; Katalin Hollódy; Olga Vincze; Hajnalka Merkli; Endre Pál; Béla Melegh
- Publisher
- Springer Netherlands
- Year
- 2005
- Tongue
- English
- Weight
- 161 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1219-4956
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The A to G transition at nt.3243 of the tRNA Leu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated w
## Abstract ## Purpose To investigate high‐energy phosphate metabolism in striated skeletal muscle of patients with Maternally Inherited Diabetes and Deafness (MIDD) syndrome. ## Materials and Methods In 11 patients with the MIDD mutation (six with diabetes mellitus [DM] and five non‐DM) and eig