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Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation

✍ Scribed by M. Arai; Shin-ichi Ohshima


Publisher
Springer
Year
1997
Tongue
English
Weight
36 KB
Volume
244
Category
Article
ISSN
0340-5354

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Maternally inherited cardiomyopathy: A n
✍ Gabriella Silvestri; Enrico Bertini; Serenella Servidei; Michele Rana; Elisabett πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 296 KB πŸ‘ 2 views

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