Trinucleotide repeat expansion and human disease
β Scribed by Holger Hummerich; Hans Lehrach
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 875 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0173-0835
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We report 3 patients from 2 families with myotonic dystrophy who d o not show an abnormal expansion of CTG trinucleotide repeats within the myotonic dystrophy gene. Characteristic features of myotonic dystrophy in these patients were frontal balding, cataracts, cardiac conduction abnormalities, and
Huntington's disease (HD) is a neurodegenerative and hereditary disease characterized by progressive movement disorders and mental and behavioral abnormalities. The HD gene is an expanding and unstable trinucleotide repeat (CAG repeat sequences). We studied 77 individuals from 38 families with HD in
Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two