Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families

Muscle and Nerve

Volumn 20, Issue 3, 1997, Pages 271-278

  Ozawa, Matsuko ^a,b,c   Nishino, Ichizo ^b   Horai, Satoshi ^d   Nonaka, Ikuya ^a,b   Goto, Yu Ichi ^a,b  

^a National Center of Neurology and Psychiatry   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c TOHO UNIVERSITY   (Japan)

^d NATIONAL INSTITUTE OF GENETICS   (Japan)

Author keywords

cytochrome c oxidase; mitochondrial DNA; myoclonus epilepsy associated with ragged red fibers; point mutation; tRNA(Lys)

Indexed keywords

MITOCHONDRIAL RNA; TRANSFER RNA;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; ENCEPHALOMYOPATHY; FEMALE; HUMAN; MALE; MYOCLONUS EPILEPSY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; BASE SEQUENCE; CHILD; CONSERVED SEQUENCE; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MERRF SYNDROME; MUSCLE FIBERS; MUSCLES; MUTATION; PEDIGREE; RNA; RNA, TRANSFER;

EID: 0031026069     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199703)20:3<271::AID-MUS2>3.0.CO;2-8     Document Type: Article

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