Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O

Dystroglycanopathies: coming into focus

(2011) Caroline Godfrey et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Abnormal glycosylation of dystroglycan in human genetic disease

(2009) Jane E. Hewitt   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant

(2008) Emma M. Clement et al.   ARCHIVES OF NEUROLOGY

A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity

(2008) Cecilia Jimenez-Mallebrera et al.   BRAIN PATHOLOGY

Limb–girdle muscular dystrophies

(2008) Michela Guglieri et al.   CURRENT OPINION IN NEUROLOGY

Muscular dystrophies due to glycosylation defects

(2008) Francesco Muntoni et al.   Neurotherapeutics