Abstract
Introduction: Congenital muscular dystrophies with defective O-glycosylation of α-dystroglycan (α-dystroglycanopathies) are a heterogeneous group of autosomal recessive inherited disorders explained by mutations in an increasing number of related genes. Among those, POMT1 was initially associated with Walker-Warburg syndrome (WWS) at the most severe end of the disease spectrum. Subsequently, milder POMT1-associated phenotypes such as congenital muscular dystrophy (CMD) or limb girdle muscular dystrophy (LGMD) have been described. In an ongoing study, we aim to further characterize the genotype-phenotype correlation and genotype-dependent long-term course of patients with genetically confirmed forms of those dystroglycanopathies and here present the wide clinical spectrum of POMT1-associated phenotypes.
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