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Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS

✍ 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

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