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A point mutation in the mitochondrial tRNALeu(UUR) gene in melas (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)

โœ Scribed by Yoko Kobayashi; Mariko Y. Momoi; Kaoru Tominaga; Takashi Momoi; Kenji Nihei; Masayoshi Yanagisawa; Yasuo Kagawa; Shigeo Ohta


Book ID
117055131
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
561 KB
Volume
173
Category
Article
ISSN
0006-291X

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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