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

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

Abstract Background The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the group of dystroglycanopathies characterized by a proximally pronounced muscular dystrophy with structural or functional in...

Full description

Bibliographic Details
Main Authors: Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel
Format: Article
Language:English
Published: BMC 2019-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
POMT1
Dystroglycan
Walker-Warburg syndrome
Limb girdle muscular dystrophy
Muscle-eye-brain disease
Lissencephaly
Online Access:http://link.springer.com/article/10.1186/s13023-019-1119-0

Internet

http://link.springer.com/article/10.1186/s13023-019-1119-0

Similar Items