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116 Bipolar disorder as the presenting clinical feature of the 3243A>G mutation in the mitochondrial tRNALeu(UUR) gene

✍ Scribed by Fernando Scaglia; Ricardo Diaz Millan; Chester W. Brown; Lee-Jun C. Wong


Book ID
116752022
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
62 KB
Volume
10
Category
Article
ISSN
1567-7249

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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