Sökning: "sarcomeric protein dysfunction"

Hittade 3 avhandlingar innehållade orden sarcomeric protein dysfunction.

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

    Författare :Eva Kimber; Göteborgs universitet; []
    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

  3. 2. Intensive Care Unit Muscle Wasting : Skeletal Muscle Phenotype and Underlying Molecular Mechanisms

    Författare :Sudhakar Reddy Aare; Larsson Lars; Rooyackers Olav; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; acute quadriplegic myopathy; gene expression; myosin; heat shock proteins; mechanical ventilation; myostatin; sepsis; corticosteroids; diaphragm; Clinical Neurophysiology; Klinisk neurofysiologi;

    Sammanfattning : Acute quadriplegic myopathy (AQM), or critical illness myopathy, is a common debilitating acquired disorder in critically ill intensive care unit (ICU) patients characterized by generalized muscle wasting and weakness of limb and trunk muscles. A preferential loss of the thick filament protein myosin is considered pathognomonic of this disorder, but the myosin loss is observed relatively late during the disease progression. LÄS MER

  4. 3. Hypertrophic cardiomyopathy in Northern Sweden : with special emphasis on molecular genetics

    Författare :Stellan Mörner; Åke Hjalmarson; Umeå universitet; []
    Nyckelord :Hypertrophic cardiomyopathy; genetics; autonomic nervous system; familial amyloid polyneuropathy; echocardiography; Epidemiology; epidemiologi;

    Sammanfattning : Hypertrophic cardiomyopathy (HCM) is a heterogeneous, often familial disease, characterized by cardiac hypertrophy, predominantly affecting the interventricular septum. To date, no study has systematically analysed the genetic and phenotypic aspects of the disease in a Swedish population. LÄS MER