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

✍ 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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πŸ“œ SIMILAR VOLUMES


Tissue segregation of a heteroplasmic mt
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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

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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