𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Maternally inherited deafness associated with a T1095C mutation in the mDNA

✍ Scribed by Tessa, Alessandro; Giannotti, Aldo; Tieri, Luigi; Vilarinho, Laura; Marotta, Giacomo; Santorelli, Filippo M


Book ID
110025092
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
120 KB
Volume
9
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A new mtDNA mutation in the tRNALeu(UUR)
✍ G. Silvestri; F. M. Santorelli; S. Shanske; C. B. Whitley; L. A. Schimmenti; S. πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 897 KB

## Communicated by N m n Arnheim We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings had fatal infantile cardiomyopathy, whereas in three maternal relatives the disease manifested later in li

Does mitochondrial genome mutation in su
✍ Holmes-Walker, D.J.; Mitchell, P.; Boyages, S.C. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 137 KB πŸ‘ 1 views

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