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

Kwang Dar Shih; Tzu Chen Yen; Cheng Yoong Pang; Yau Huei Wei

doi:10.1016/0006-291X(91)91535-K

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

Kwang Dar Shih, Tzu Chen Yen, Cheng Yoong Pang, Yau Huei Wei^*

^*Corresponding author for this work

National Yang Ming Chiao Tung University

Research output: Contribution to journal › Journal Article › peer-review

39 Scopus citations

Abstract

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 subjects. These findings are consistent with the recent report of Shoffner et al. (Cell 1990, 61:931-937), and confirm that the point mutation is indeed the cause of this disease.

Original language	English
Pages (from-to)	1109-1116
Number of pages	8
Journal	Biochemical and Biophysical Research Communications
Volume	174
Issue number	3
DOIs	https://doi.org/10.1016/0006-291X(91)91535-K
State	Published - 14 02 1991
Externally published	Yes

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title = "Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease",

abstract = "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 tRNALys gene. No such a mutation was found in mtDNA of either unaffected members of that family or other healthy Chinese subjects. These findings are consistent with the recent report of Shoffner et al. (Cell 1990, 61:931-937), and confirm that the point mutation is indeed the cause of this disease.",

author = "Shih, {Kwang Dar} and Yen, {Tzu Chen} and Pang, {Cheng Yoong} and Wei, {Yau Huei}",

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T1 - Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease

AU - Shih, Kwang Dar

AU - Yen, Tzu Chen

AU - Pang, Cheng Yoong

AU - Wei, Yau Huei

PY - 1991/2/14

Y1 - 1991/2/14

N2 - 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 tRNALys gene. No such a mutation was found in mtDNA of either unaffected members of that family or other healthy Chinese subjects. These findings are consistent with the recent report of Shoffner et al. (Cell 1990, 61:931-937), and confirm that the point mutation is indeed the cause of this disease.

AB - 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 tRNALys gene. No such a mutation was found in mtDNA of either unaffected members of that family or other healthy Chinese subjects. These findings are consistent with the recent report of Shoffner et al. (Cell 1990, 61:931-937), and confirm that the point mutation is indeed the cause of this disease.

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DO - 10.1016/0006-291X(91)91535-K

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SN - 0006-291X

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JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

IS - 3

ER -

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

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