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
✦ 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
Clinical variability associated with the
✍
Y. Campos; M. A. Martín; J. Vaamonde; A. Cabello; J. Esteban; J. Arenas
📂
Article
📅
1996
🏛
Springer
🌐
English
⚖ 278 KB
Genotype to phenotype correlations in mi
✍
Caterina Mariotti; Nicola Savarese; Anu Suomalainen; Marco Rimoldi; Giacomo Comi
📂
Article
📅
1995
🏛
Springer
🌐
English
⚖ 928 KB
Maternally inherited diabetes and deafne
✍
M. Arai; Shin-ichi Ohshima
📂
Article
📅
1997
🏛
Springer
🌐
English
⚖ 36 KB
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
Frequency and clinical features of patie
✍
H. Nagata; K. Kumahara; T. Tomemori; Y. Arimoto; K. Isoyama; K. Yoshida; A. Konn
📂
Article
📅
2001
🏛
Nature Publishing Group
🌐
English
⚖ 75 KB