Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

  title={Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry},
  author={Judith Altmann and Boriana Buechner and Aleksandra A Nadaj-Pakleza and Jochen Schaefer and Sandra Jackson and Diana Lehmann and Marcus Deschauer and Robert Kopajtich and Ronald R. Lautenschl{\"a}ger and Klaus A. Kuhn and Kathrin Nora Karle and Ludger Sch{\"o}ls and J{\"o}rg Bernhard Schulz and Joachim Weis and Holger Prokisch and Cornelia Kornblum and Kristl G. Claeys and Thomas Klopstock},
  journal={Journal of Neurology},
The m.8344A>G mutation in the MTTK gene, which encodes the mitochondrial transfer RNA for lysine, is traditionally associated with myoclonic epilepsy and ragged-red fibres (MERRF), a multisystemic mitochondrial disease that is characterised by myoclonus, seizures, cerebellar ataxia, and mitochondrial myopathy with ragged-red fibres. We studied the clinical and paraclinical phenotype of 34 patients with the m.8344A>G mutation, mainly derived from the nationwide mitoREGISTER, the multicentric… CONTINUE READING


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Phenotypic spectrum of the m.8344A>G mutation

Journal of Neurology • 2016
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