The muscular dystrophies (MDs) represent a diverse collection of inherited human
disorders, which affect to varying degrees skeletal, cardiac, and sometimes smooth muscle …

Fukutin-related protein (FKRP) is a glycosyltransferase involved in the functional
glycosylation of α-dystroglycan (DG), a key component in the link between the cytoskeleton …

Mutations in fukutin-related protein (FKRP) gene cause a wide spectrum of disease
phenotypes including the mild limb-girdle muscular dystrophy 2I (LGMD2I), the severe …

Dystroglycan (DG) is a highly expressed extracellular matrix receptor that is linked to the
cytoskeleton in skeletal muscle. DG is critical for the function of skeletal muscle, and muscle …

Fukutin-related protein-muscular dystrophy is characterized by defects in glycosylation of α-
dystroglycan with variable clinical phenotypes, most commonly as limb-girdle muscular …

Limb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the Fukutin-
related protein (FKRP) gene, leading to inadequate glycosylation of α-dystroglycan, an …

Limb-girdle muscular dystrophy (LGMD) 2i results from mutations in fukutin-related protein
and aberrant α-dystroglycan glycosylation. Although this significantly compromises muscle …

The fukutin-related protein P448L mutant mouse replicates many pathologies common to
limb girdle muscular dystrophy 2i (LGMD2i) and is a potentially strong candidate for relevant …

It is currently estimated that roughly 50,000 Americans are affected by some form of
muscular dystrophy and many others by the various forms of myopathies. Animal models are …

Defects in dystroglycan glycosylation are associated with a group of muscular dystrophies,
termed dystroglycanopathies, that include Fukuyama congenital muscular dystrophy …