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Expanded Phenotypic Spectrum of the M.8344a>g “MERRF” Mutation: Data from the German Mitonet Registry

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

Journal of Neurology（2016）

Cited 78|Views49

Key words

Myoclonus,Ataxia,Epilepsy,Ragged-red fibres,Psychiatric,Hearing impairment

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