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New mitochondrial tRNAHIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)

✍ Scribed by Maria Antonietta Calvaruso; Michel A. Willemsen; Richard J. Rodenburg; Mariël van den Brand; Jan A.M. Smeitink; Leo Nijtmans


Book ID
116752241
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
511 KB
Volume
11
Category
Article
ISSN
1567-7249

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We reviewed 10 patients (5 males, 5 females) with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The age of symptom onset ranged from 3 months to 12 years. All had lactic acidosis, multiple stroke-like events with secondary neurological deficits, radiological changes of