A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

類似資料

• mtDNA in congenital myotonic dystrophy.
  著者:: Thyagarajan, D, 等
  出版事項: (1993)
• A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
  著者:: Silvestri, G, 等
  出版事項: (1992)
• Reply to Howell et al.: The need for a joint effort in the construction of a reference data base for normal sequence variants of human mtDNA
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• Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
  著者:: Larsson, N G, 等
  出版事項: (1992)
• Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).
  著者:: Boulet, L, 等
  出版事項: (1992)