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ZARAIEVA , Irina

Last name: ZARAIEVA

First name: Irina

2018 (v1)

Publication

Metadata-only

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Astrea, Guja Romano, Alessandro Angelini, Corrado

BACKGROUND: Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB,...

Uploaded on: April 14, 2023