4 Result(s)
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Article
Open AccessClinical, histological, and genetic characterization of PYROXD1-related myopathy
Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb-girdle muscular dystrophy. Here we describe three novel PYROXD1 families at the clin...
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Article
Open AccessMuscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
Nemaline myopathy (NM) is a rare congenital myopathy characterised by hypotonia, muscle weakness, and often skeletal muscle deformities with the presence of nemaline bodies (rods) in the muscle biopsy. The neb...
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Article
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A
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Regeneration of Skeletal Muscle Induced by Satellite Cell Grafts
Trauma to a skeletal muscle may be experimentally induced by various types of injury. This results in the necrosis of the injured muscle fibers followed by the degradation of cell debris and subsequent regener...
