Biochemical and Biophysical Research Communications
Volume 174, Issue 3, 14 February 1991, Pages 1109-1116
Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease
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Movement disorders and mitochondrial disease
2011, Handbook of Clinical NeurologyCitation Excerpt :Tsairis et al. (1973) were the first to report the presence of mitochondrial abnormalities on skeletal muscles of patients with familial myoclonic epilepsy, and a few years later Fukuhara et al. (1980) provided the first description of MERRF syndrome. The majority of patients with MERRF harbor the A8344G mutation, a heteroplasmic point mutation in the mitochondrial transfer RNA for lysine (Shoffner et al., 1990; Berkovic et al., 1991; Hammans et al., 1991; Noer et al., 1991; Shih et al., 1991; Zeviani et al., 1991). Since the report of this mutation in 1990 (Shoffner et al., 1990), a number of others have been found to account for a minority of patients with typical or atypical MERRF phenotype.
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