Article
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
Journal of the neurological sciences - 15 Jun 2009
Virgilio Roberta, Ronchi Dario, Bordoni Andreina, Fassone Elisa, Bonato Sara, Donadoni Chiara, Torgano Giuseppe, Moggio Maurizio, Corti Stefania, Bresolin Nereo, Comi Giacomo P
Abstract excerpt
The G8363A is a very rare mtDNA tRNA(Lys) gene mutation that has been associated to MERRF-like syndrome, cardiomyopathy or Leigh syndrome. Here, we describe the clinical and molecular features of a new large multigenerational family and we review the literature of cases with this mutation. In our family seven members presented a heterogeneous mitochondrial disease phenotype, from MERRF-like syndrome to isolated...
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