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Classical MERRF phenotype associated with mitochondrial tRNALeu(m.3243A>G) mutation

✍ Scribed by Florian Brackmann; Angela Abicht; Uwe Ahting; Rolf Schröder; Regina Trollmann

Book ID
113042708
Publisher
Springer
Year
2012
Tongue
English
Weight
245 KB
Volume
171
Category
Article
ISSN
0340-6997

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## ~~ We studied a patient with a rnitochondrial encephalomyopathy characterized by the presence of all the cardinal features of both myoclonic epilepsy and ragged-red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndromes. Muscle biopsy show

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We describe a family which demonstrates and expands the extreme clinical variabilty now known to be associated with the A+G transition at nucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including a