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Article

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

Journal of neurology - 1 May 2016

Altmann Judith, Büchner Boriana, Nadaj-Pakleza Aleksandra, Schäfer Jochen, Jackson Sandra, Lehmann Diana, Deschauer Marcus, Kopajtich Robert, Lautenschläger Ronald, Kuhn Klaus A, Karle Kathrin, Schöls Ludger, Schulz Jörg B, Weis Joachim, Prokisch Holger, Kornblum Cornelia, Claeys Kristl G, Klopstock Thomas

Abstract excerpt

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...

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PMID: 26995359
DOI: 10.1007/s00415-016-8086-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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