GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

Expanding the phenotype of GMPPB mutations

(2015) Macarena Cabrera-Serrano et al.   BRAIN

Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

(2015) Katsiaryna Belaya et al.   BRAIN

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

(2015) D. X. Bharucha-Goebel et al.   NEUROLOGY

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

(2014) Alya R. Raphael et al.   BRAIN RESEARCH

Diagnostic approach to the congenital muscular dystrophies

(2014) Carsten G. Bönnemann et al.   NEUROMUSCULAR DISORDERS

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

(2012) Tobias Willer et al.   NATURE GENETICS