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Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome

Rare DiseasesDevelopmental BiologyC-terminal RegionSkeletal MuscleGenetic DisorderMedicineGeneticsMendelian DisorderNovel MutationsMolecular GeneticsDisease Gene IdentificationCongenital Myasthenic SyndromeNeuromuscular Pathology