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Clinical spectrum of mitochondrial DNA mutation at base pair 8344

✍ Scribed by Berkovic, S.F.; Shoubridge, E.A.; Andermann, F.; Andermann, E.; Carpenter, S.; Karpati, G.


Book ID
121913259
Publisher
The Lancet
Year
1991
Tongue
English
Weight
177 KB
Volume
338
Category
Article
ISSN
0140-6736

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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