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GHIRRI , Paolo

Last name: GHIRRI

First name: Paolo

2014 (v1)

Publication

Metadata-only

Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations

Trovato, Rosanna Astrea, Guja Bartalena, Laura

Fukutin-related protein (FKRP) is a putative glycosyltransferase that mediate O-linked glycosylation of the α-dystroglycan. Mutations in the FKRP gene cause a spectrum of diseases ranging from a limb girdle muscular dystrophy 2I (LGMD2I), to severe Walker-Warburg or muscle-eye-brain forms and a congenital muscular dystrophy (with or without...

Uploaded on: March 27, 2023