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FAMILIAL MYOCLONUS EPILEPSY ASSOCIATED WITH DEAF-MUTISM IN A FAMILY SHOWING OTHER PSYCHOBIOLOGICAL ABNORMALITIES

โœ Scribed by LATHAM, A. D. ;MUNRO, T. A.

Book ID
115246284
Publisher
Wiley (Blackwell Publishing)
Year
1938
Tongue
English
Weight
694 KB
Volume
8
Category
Article
ISSN
2050-1420

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Myoclonus epilepsy associated with ragge
Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families
โœ Matsuko Ozawa; Ichizo Nishino; Satoshi Horai; Ikuya Nonaka; Yu-Ichi Goto ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 547 KB

In addition to well-known mutations at nucleotide pair 8344 and 8356 in mitochondrial DNA in patients with myoclonus epilepsy associated with ragged-red fibers (MERRF), we found a new G-to-A point mutation at nucleotide 8363 in two Japanese families. The probands had the typical clinical characteris