Sökning: "sarcomeric myopathy"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden sarcomeric myopathy.

  1. 1. Muscle diseases with damaged sarcomeres - causes and consequences

    Författare :Monica Ohlsson; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :congenital myopathy; nemaline myopathy; cap disease; hereditary myopathy with early respiratory failure; myofibrillar myopathy; ACTA1; TPM2; TPM3; TTN;

    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

  2. 2. Myosin myopathy. A new disease entity

    Författare :Homa Tajsharghi; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :Neuromuscular disorders; Myosin myopathy; Myosin heavy chain; Myosin storage myopathy;

    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

  3. 3. Cellular studies of neuromuscular disorders related to the sarcomeric proteins

    Författare :Saba Abdul-Hussein; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :myogenesis; myoblast; sarcomeric myopathy; TPM2; TRIM54; TRIM63;

    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

  4. 4. Role of intermediate filament desmin in development of desmin-related myopathy

    Författare :Natalia Smolina; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    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

  5. 5. Arthrogryposis. Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis

    Författare :Eva Kimber; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :arthrogryposis; amyoplasia; distal arthrogryposis; muscle involvement; motor function; contractures; muscle morphology; sarcomeric protein dysfunction;

    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