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A novel PSENEN mutation in a patient with complaints of memory loss and a family history of dementia

✍ Scribed by Diego Albani; Sara Batelli; Marzia Pesaresi; Francesca Prato; Letizia Polito; Gianluigi Forloni; Roberta Pantieri

Book ID
118463460
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
146 KB
Volume
3
Category
Article
ISSN
1552-5260

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## Abstract One challenge in the molecular diagnosis of mitochondrial DNA (mtDNA) disorders is detection of a low percentage of mutant heteroplasmy. We report a patient who had a delayed molecular diagnosis of mitochondrial encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS) syndrome