## Maternally inherited diabetes and deafness (MIDD) is a new sub-type of diabetes and results from an A to G substitution at position 3243 of the mitochondrial tRNA Leu(UUR) gene. This mutation is also associated with a neurological syndrome (MELAS). Recent studies have screened carefully select
Brain anomalies in maternally inherited diabetes and deafness syndrome
✍ Scribed by I. Fromont; F. Nicoli; R. Valéro; O. Felician; B. Lebail; Y. Lefur; J. Mancini; V. Paquis-Flucklinger; P. J. Cozzone; Bernard Vialettes
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 259 KB
- Volume
- 256
- Category
- Article
- ISSN
- 0340-5354
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Two types of retinopathy, diabetic and pigmentary, may be seen in subjects with maternal inheritance diabetes and deafness. The potential for interactions between the two retinopathies has not been explored. The mitochondrial mutation may affect development of diabetic retinopathy in subjects with M
## 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