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
โฆ LIBER โฆ
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNALys gene
โ Scribed by Wan Fang; Chin-Chang Huang; Nai-Shun Chu; Cheng-Chun Lee; Rou-Shayn Chen; Cheng-Yoong Pang; Kwang-Dar Shih; Yau-Huei Wei
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 493 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0148-639X
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We report a 64-year-old man presenting with multiple symmetric lipomatosis (MSL) and mitochondrial encephalomyoneuropathy. The diagnosis of a mitochondrial cytopathy was based on the typical clinical symptoms and signs, including chronic progressive external ophthalmoplegia, hearing impairment, cere