Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene.

doi:10.1002/mus.880170107

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Article

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene.

Muscle & nerve - 1 Jan 1994

Fang W, Huang C C, Chu N S, Lee C C, Chen R S, Pang C Y, Shih K D, Wei Y H

Abstract excerpt

We report myoclonic epilepsy with ragged-red fibers (MERRF) syndrome in a Chinese family with confirmed mitochondrial DNA point mutation. Six members of the family including the grandmother, two siblings, and three grandchildren were affected. Among them, action myoclonus was seen in five; short...

Topics

Adult
Aged
Asian People
Base Sequence
Child
China
DNA, Mitochondrial
Female
Humans
MERRF Syndrome
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
RNA, Transfer, Lys

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