There is an unmet need to identify biomarkers sensitive to change in rare, slowly
progressive neuromuscular diseases. Quantitative magnetic resonance imaging (MRI) of …

The limb‐girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous,
autosomal inherited muscular dystrophies with a childhood to adult onset, manifesting with …

Objective Genetic diagnosis of muscular dystrophies (MDs) has classically been guided by
clinical presentation, muscle biopsy, and muscle MRI data. Muscle MRI suggests diagnosis …

Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders.
Treatment is sorely needed and currently expanding based on safety and efficacy adopting …

Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular
dystrophies (LGMDs), constituting about 10–25% of LGMDs. The clinical phenotype is …

Limb‐girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous
disorders characterized by predominantly proximal muscle weakness. We aimed to …

Background Limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a
progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine …

In the last years, magnetic resonance imaging (MRI) has become fundamental for the
diagnosis and monitoring of myopathies given its ability to show the severity and distribution …

Background and objective Oculopharyngeal muscular dystrophy (OPMD) is a genetic
disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene …

Pompe disease is characterized by a deficiency of acid alpha‐glucosidase that results in
muscle weakness and a variable degree of disability. There is an approved therapy based …