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Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

โœ Scribed by Dr. Shuji Mita; Dr. Makoto Tokunaga; Dr. Toshihide Kumamoto; Dr. Makoto Uchino; Dr. Ikuya Nonaka; Dr. Masayuki Ando

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
618 KB
Volume
18
Category
Article
ISSN
0148-639X

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The 3260 mutation in mitochondrial DNA c
The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)
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