In this work, we review clinical features and genetic diagnosis of diseases caused by
mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally …

Idiopathic inflammatory myopathies (IIMs) are a group of acquired muscle diseases with
muscle inflammation, weakness, and other extra-muscular manifestations. IIMs can …

Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …

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

Whole-body magnetic resonance imaging has emerged as a useful imaging tool in
diagnosing and characterizing the progression of myopathies and muscular dystrophies …

Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare
inherited disorder that may result in multisystem involvement of varying phenotypes …

Distal myopathies are a group of rare muscle diseases characterized by distal weakness at
onset. Although acquired myopathies can occasionally present with distal weakness, the …

Objective To characterize muscle involvement and evaluate disease severity in patients with
GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy …

Aims The most common autosomal recessive limb girdle muscular dystrophy is associated
with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been …

Despite recent advances in the understanding of inherited muscle and neuromuscular
junction diseases, as well as the advent of a wide range of genetic tests, patients continue to …