Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype
β Scribed by Mariz Vainzof; Maria Rita Passos-Bueno; Reinaldo I. Takata; Rita de Cassia M. Pavanello; Mayana Zatz
- Book ID
- 118931733
- Publisher
- Elsevier Science
- Year
- 1993
- Tongue
- English
- Weight
- 720 KB
- Volume
- 119
- Category
- Article
- ISSN
- 0022-510X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
The molecular analysis of 127 DMD/BMD patients showed that 73 of them (57%) had deletions in the dystrophin gene. Two different methods were used in this study: (a) hybridization of HindIII-digested genomic DNA with nine cDNA probes corresponding to the entire 14kb cDNA of the DMD gene; and (b) simu
## Abstract We report on a Friedreich's ataxia (FA) family with 3 affected siblings with markedly different phenotypic presentations, including one with spastic paraplegia. Molecular analysis showed midsize GAA repeat expansion sizes in all 3 individuals. Gait spasticity in FA, although rare, has b