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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

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author: Carmelo Rodolico  Angela Abicht  Hanns Lochmüller  Shahriar Nafissi  Jan Senderek  Janbernd Kirschner  Volker Straub  Michael Hanna  Benedikt Schoser  Francesco Muntoni  Jacqueline Palace  Juan J. Vílchez  Hossein Najmabadi 

Publication date October 6, 2011
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