Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients.

doi:10.1212/wnl.43.6.1198

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Article

Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients.

Neurology - 1 Jun 1993

Tanno Y, Yoneda M, Tanaka K, Kondo R, Hozumi I, Wakabayashi K, Yamada M, Fukuhara N, Ikuta F, Tsuji S

Abstract excerpt

We documented the presence of a point mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA) in various postmortem tissues from two patients with myoclonus epilepsy associated with ragged-red fibers (MERRF). The percentages of the mutant mtDNA were similar (93 to 99%) in both clinically affe...

Topics

Adult
DNA, Mitochondrial
Female
Humans
MERRF Syndrome
Male
Mutation
RNA, Transfer, Lys

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