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Alpha-dystroglycanopathies (αDGs) represent a heterogeneous group of muscular dystrophies. There are currently 18 known genes leading to forms of alphaDG, with mutations of GDP-mannose pyrophosphorylase B (GMPPB) being one of the most recently described in one case series. The spectrum of reported GMPPB patients spans from severe neonatal to a mild later onset limb-girdle muscular dystrophy (LGMD)...