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The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

โœ Scribed by Filippo M. Santorelli; Sara Shanske; Alfons Macaya; Darryl C. DeVivo; Dr. Salvatore DiMauro

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
729 KB
Volume
34
Category
Article
ISSN
0364-5134

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Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)
โœ Gabriella Silvestri; Enrico Bertini; Serenella Servidei; Michele Rana; Elisabett ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 296 KB ๐Ÿ‘ 2 views

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 w