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

@article{Altmann2016ExpandedPS,
  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},
  year={2016},
  volume={263},
  pages={961-972}
}
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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References

Publications referenced by this paper.
Showing 1-10 of 25 references

Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients.

Movement disorders : official journal of the Movement Disorder Society • 2007
View 11 Excerpts
Highly Influenced

The typical (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders

MJ Molnar, J Perenyi, E Siska, G Nemeth, Z Nagy
J Neurol • 2009
View 1 Excerpt

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