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Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease.

Biochemical and biophysical research communications - 14 Feb 1991

Shih K D, Yen T C, Pang C Y, Wei Y H

Abstract excerpt

We analyzed the mitochondrial DNA of blood cells of 5 patients from a Chinese family with myoclonic epilepsy and ragged-red fiber disease. The results showed that in all the affected individuals there was a point mutation from A to G at the 8344th nucleotide pair, which was located in the tRNA(Lys) gene. No such a mutation was found in mtDNA of either unaffected members of that family or other healthy Chinese...

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Identifiers

PMID: 1900002
DOI: 10.1016/0006-291x(91)91535-k

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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