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Titel:

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

Dokumenttyp:
Journal Article; 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
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:
5
Seitenangaben Beitrag:
961-72
Sprache:
eng
Volltext / DOI:
doi:10.1007/s00415-016-8086-3
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/26995359
Print-ISSN:
0340-5354
TUM Einrichtung:
Institut für Humangenetik; Institut für Medizinische Statistik und Epidemiologie; Neurologische Klinik und Poliklinik
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