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

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 involvemen...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636095/
https://www.ncbi.nlm.nih.gov/pubmed/31311558
http://dx.doi.org/10.1186/s13023-019-1119-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636095/
https://www.ncbi.nlm.nih.gov/pubmed/31311558
http://dx.doi.org/10.1186/s13023-019-1119-0

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