نتایج جستجو برای: myofibrillar myopathy
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OBJECTIVES Arrhythmogenic right ventricular dysplasia (ARVD) is a rare, genetic disorder predominantly affecting the right ventricle. There is increasing evidence that in some cases, ARVD is due to mutations in genes, which have also been implicated in primary myopathies. This review gives an overview about myopathy-associated ARVD and how these patients can be managed. METHODS A literature r...
BACKGROUND Nemaline myopathy-the most common non-dystrophic congenital myopathy-is caused by mutations in thin filament genes, of which the nebulin gene is the most frequently affected one. The nebulin gene codes for the giant sarcomeric protein nebulin, which plays a crucial role in skeletal muscle contractile performance. Muscle weakness is a hallmark feature of nemaline myopathy patients wit...
We report a patient with Whipple's disease who developed a myopathy that improved during antibiotic therapy. The muscle biopsy showed mild type 2 fibre atrophy, type 1 fibre preponderance, variability in fibre size, and changes in the myofibrillar pattern of affected fibres. Interfascicular macrophages contained PAS-positive material. With the electron microscope these macrophages contained mem...
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