The spectrum of all glycan structures—the glycome—is immense. In humans, its size is
orders of magnitude greater than the number of proteins that are encoded by the genome …

The study of the muscle cell in the muscular dystrophies (MDs) has shown that mutant
proteins result in perturbations of many cellular components. MDs have been associated …

Abstract Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital
muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide …

Protein O-mannose β1, 2-N-acetyglucosaminyltransferase 1 (POMGnT1) is an enzyme
involved in the synthesis of O-mannosyl glycans. Mutations of POMGnT1 in humans result in …

The importance of O‐glycosylation of alpha‐dystroglycan (α‐DG) is evident from the
identification of POMT1 mutations in Walker‐Warburg syndrome (WWS). Approximately one …

Over the past decade, molecular understanding of the congenital muscular dystrophies
(CMDs) has greatly expanded. The diseases can be classified into 3 major groups based on …

The recent identification of mutations in genes encoding demonstrated or putative
glycosyltransferases has revealed a novel mechanism for congenital muscular dystrophy …

Objectives To report the spectrum of brain magnetic resonance imaging findings in 13
patients with congenital muscular dystrophy andFKRPgene mutations and to explore …

During the past decade, considerable progress in the field of congenital muscular
dystrophies (CMDs) had led to the identification of a growing number of causative genes …

Recent studies have defined a group of muscular dystrophies, now termed the
dystroglycanopathies, as novel disorders of glycosylation. These conditions include Walker …