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

doi:10.1016/0006-291x(91)91535-k

Back to search

Article

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(Ly...

Topics

Central Nervous System Diseases
China
DNA, Mitochondrial
Electron Transport
Epilepsies, Myoclonic
Female
Humans
Male
Muscular Diseases
Mutation
Oligonucleotides, Antisense
Pedigree
Polymerase Chain Reaction
Taiwan

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.