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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry. 
Abstract:
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 regi...    »
 
Zeitschriftentitel:
J Neurol 
Jahr:
2016 
Band / Volume:
263 
Heft / Issue:
Seitenangaben Beitrag:
961-72 
Sprache:
eng 
Print-ISSN:
0340-5354 
TUM Einrichtung:
Neurologische Klinik und Poliklinik; Institut für Medizinische Statistik und Epidemiologie