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Two patients with GMPPB mutation: The overlapping phenotypes of limb‐girdle myasthenic syndrome and limb‐girdle muscular dystrophy dystroglycanopathy |
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| Authors: | Federica Montagnese MD Elisabeth Klupp MD Dimitrios C. Karampinos MD Saskia Biskup MD Dieter gläser MD Jan S. Kirschke MD Benedikt Schoser MD |
| Affiliation: | 1. Friedrich‐Baur Institut, Department of Neurology, Ludwig‐Maximilian University, Munich, Germany;2. Section of Diagnostic and Interventional Neuroradiology, Klinikum rechts der Isar, Technische Universit?t, Munich, Germany;3. CeGaT GmbH, Tübingen, Germany;4. Genetikum, Neu‐Ulm, Germany |
| Abstract: | |
| Keywords: | GMPPB dystroglycanopathy congenital myasthenic syndrome congenital muscular dystrophy limb‐girdle muscular dystrophy LGMD2T |