𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA

✍ Scribed by Y. Campos; J. Bautista; E. Gutierrez-Rivas; J. Llabrés; G. Lorenzo; J. Arenas


Publisher
Springer
Year
1994
Tongue
English
Weight
114 KB
Volume
17
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


The expanding clinical phenotype of the
✍ Feigenbaum, Annette; Chitayat, David; Robinson, Brian; MacGregor, Daune; Myint, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

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

Sporadic MERRF/MELAS overlap syndrome as
✍ Yolanda Campos; Miguel Angel Martin; Gustavo Lorenzo; Manuel Aparicio; Ana Cabel 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 378 KB 👁 1 views

## ~~ We studied a patient with a rnitochondrial encephalomyopathy characterized by the presence of all the cardinal features of both myoclonic epilepsy and ragged-red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndromes. Muscle biopsy show