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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Geis, Tobias ; Rödl, Tanja ; Topaloğlu, Haluk ; Balci-Hayta, Burcu ; Hinreiner, Sophie ; Müller-Felber, Wolfgang ; Schoser, Benedikt ; Mehraein, Yasmin ; Hübner, Angela ; Zirn, Birgit ; Hoopmann, Markus ; Reutter, Heiko ; Mowat, David ; Schuierer, Gerhard ; Schara, Ulrike ; Hehr, Ute ; Kölbel, Heike


BackgroundThe protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of alpha-dystroglycan. POMT1-related disorders belong to the group of dystroglycanopathies characterized by a proximally pronounced muscular dystrophy with structural or functional involvement of the brain and/or the eyes. The phenotypic spectrum ranges from the severe Walker-Warburg ...


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