Dystroglycanopathy is a collective term referring to muscular dystrophies with abnormal
glycosylation of dystroglycan. At least 18 causative genes of dystroglycanopathy have been …

Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in
protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most …

There has been an ever-expanding list of the Limb–Girdle Muscular Dystrophies (LGMD).
There are currently 8 subtypes of autosomal dominant (AD) and 26 subtypes of autosomal …

Limb-Girdle Muscular Dystrophy R9 (LGMDR9) is a dystroglycanopathy caused by Fukutin-
related protein (FKRP) defects leading to the deficiency of α-DG glycosylation, essential to …

The limb-girdle muscular dystrophies (LGMDs) are a genetically pleiomorphic class of
inherited muscle diseases that are known to share phenotypic features. Selected LGMD …

Mutations in the fukutin-related protein (FKRP) gene result in a broad spectrum of muscular
dystrophy (MD) phenotypes, including the severe Walker-Warburg syndrome (WWS). Here …

Gene therapy has emerged as a promising frontier in the pursuit of effective treatments for
primary myopathies. This scientific review explores the application of viral vectors and more …

Many genetic diseases that are responsible for muscular disorders have been described to
date. Gene replacement therapy is a state-of-the-art strategy used to treat such diseases. In …

We describe the natural history of 'Amish'nemaline myopathy (ANM), an infantile-onset,
lethal disease linked to a pathogenic c. 505G> T nonsense mutation of TNNT1, which …

Neuromuscular diseases encompass a heterogeneous array of disorders characterized by
varying onset ages, clinical presentations, severity, and progression. While these conditions …