Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease
β Scribed by Kwang-Dar Shih; Tzu-Chen Yen; Cheng-Yoong Pang; Yau-Huei Wei
- Book ID
- 115764378
- Publisher
- Elsevier Science
- Year
- 1991
- Tongue
- English
- Weight
- 935 KB
- Volume
- 174
- Category
- Article
- ISSN
- 0006-291X
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The distribution of the causal 8344A-->G mtDNA mutation has been examined in six tissues of a patient with myoclonic epilepsy with ragged red fibers (MERRF), to study the developmental genetics of this type of mitochondrial disorder, and to determine the pathophysiological importance of the mtDNA he
In addition to well-known mutations at nucleotide pair 8344 and 8356 in mitochondrial DNA in patients with myoclonus epilepsy associated with ragged-red fibers (MERRF), we found a new G-to-A point mutation at nucleotide 8363 in two Japanese families. The probands had the typical clinical characteris