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Accumulation of Somatic Nucleotide Substitutions in Mitochondrial DNA Associated with the 3243 A-to-G tRNALeu(UUR)Mutation in Encephalomyopathy and Cardiomyopathy

✍ Scribed by Sergey A. Kovalenko; Masashi Tanaka; Makoto Yoneda; Alexander F. Iakovlev; Takayuki Ozawa


Book ID
115578449
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
86 KB
Volume
222
Category
Article
ISSN
0006-291X

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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