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An Infant With a Mitochondrial A3243G Mutation Demonstrating the MELAS Phenotype

โœ Scribed by Takeshi Kanaumi; Shinichi Hirose; Yu-ichi Goto; Etsuo Naitou; Akihisa Mitsudome


Book ID
116824878
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
228 KB
Volume
34
Category
Article
ISSN
0887-8994

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Maternally inherited cardiomyopathy: A n
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