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Mutation in the mitochondrial tRNAVal causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes

โœ Scribed by Catherine Glatz; Kristin D'Aco; Sabrina Smith; Neal Sondheimer


Book ID
116752223
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
737 KB
Volume
11
Category
Article
ISSN
1567-7249

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The 3260 mutation in mitochondrial DNA c
โœ Ichizo Nishino; Mikio Komatsu; Soichi Kodama; Satoshi Horai; Ikuya Nonaka; Yu-Ic ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 248 KB

Maternally inherited myopathy and cardiomyopathy (MIMyCa) is one of the phenotypic subgroups of mitochondrial diseases. There are two reports of European families with MyMICa associated with an Ato-G transition at nucleotide (nt) 3260 in the mitochondrial tRNAkU(UUR) We have identified the 3260 mut