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Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)

✍ Scribed by Gabriella Silvestri; Enrico Bertini; Serenella Servidei; Michele Rana; Elisabetta Zachara; Enzo Ricci; Pietro Tonali

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 296 KB
Volume: 20
Category: Article
ISSN: 0148-639X
DOI: 10.1002/(sici)1097-4598(199702)20:2<221::aid-mus13>3.0.co;2-5

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✦ Synopsis

The A to G transition at nt.3243 of the tRNA Leu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated with the 3243 mutation.

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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