Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS
β Scribed by Mahsa Mehrazin; Sara Shanske; Petra Kaufmann; Ying Wei; Jorida Coku; Kristin Engelstad; Ali Naini; Darryl C. De Vivo; Salvatore DiMauro
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 144 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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MELAS is a mitochondrial encephalomyopathy characterized clinically by recurrent stroke-like episodes, seizures, sensorineural deafness, dementia, hypertrophic cardiomyopathy, and short stature. The majority of patients are heteroplasmic for a mutation (A3243G) in the tRNA leu(UUR) gene in mitochond
Longitudinal changes in IQ among mentally retarded (MR) fragile X [fra(x)] males have been reported previously. While age is associated with decline in IQ, not all males are so affected. This suggests that there may be more than one subtype of affected fra(X) male. Therefore, we examined the distrib