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

doi:10.1002/(SICI)1097-4598(199703)20:3<271::AID-MUS2>3.0.CO;2-8

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Article

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

Muscle & nerve - 1 Mar 1997

Ozawa M, Nishino I, Horai S, Nonaka I, Goto Y I

Abstract excerpt

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 characte...

Topics

Adolescent
Base Sequence
Child
Conserved Sequence
DNA, Mitochondrial
Female
Humans
MERRF Syndrome
Male
Muscle Fibers, Skeletal
Muscles
Mutation
Pedigree
RNA
RNA, Mitochondrial
RNA, Transfer

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