These are often multisystemic and vary considerably in age at onset usually in the first or second decade of lifedistribution of affected muscles, severity, and course. Our research combines clinical investigations with morphologic, genetic, molecular-biological, and biochemical studies using biopsy specimens and cultured cells. Dermatomyositis may occur in association with malignant neoplasms. We study etiology and pathogenesis of neuromuscular diseases. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber.
The illness occurs with approximately equal frequency in children and adults.
1. Översiktlig projektbeskrivning
From Joynt, Clinical Neurology,Ch56, p MERRF Syndrome A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Diseases of the sarcomere are a group of myopathies caused by mutations in genes encoding sarcomere proteins, which result in defective structure the muscle contractile apparatus. Familial forms usually begin in childhood and lack inflammatory changes. Anders OldforsLast revised by: