Sökning: "sarcomeric myopathy"
Visar resultat 1 - 5 av 7 avhandlingar innehållade orden sarcomeric myopathy.
Sammanfattning : Muscle diseases, also called myopathies, are usually defined as diseases where the pathology is confined to the muscle itself. This excludes diseases caused by structural abnormalities in the peripheral nerve, from the anterior horn cell to the neuromuscular junction. LÄS MER
Sammanfattning : By the discovery and characterization of two familial myopathies caused by mutations in myosin heavy chaingenes, we introduce a new entity within the field of neuromuscular disorders: Myosin myopathyThe first myopathy affected a family in western Sweden. Previous linkage analysis had located the gene tochromosome 17p13. LÄS MER
Sammanfattning : Sarcomere is the basic unit of cardiac and skeletal muscle contraction and its proper function requires an invariant organization of this structure. Mutations in sarcomeric proteins are known to cause increasing number of different cardiac and skeletal muscle diseases. LÄS MER
Sammanfattning : Desmin is a major intermediate filament of muscle cells, serving to transmit mechanical forces and propagate mechanochemical signals, to coordinate contraction and relaxation cycles, and to stabilize the positioning of cellular organelles, e.g. mitochondria. LÄS MER
Sammanfattning : Arthrogryposis Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis Background. Arthrogryposis Multiplex Congenita, AMC, is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The pathogenesis is impaired fetal movements. LÄS MER