Sökning: "myofibrillar myopathy"

Hittade 4 avhandlingar innehållade orden myofibrillar myopathy.

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

    Författare :Monica Ohlsson; Göteborgs universitet; []
    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

  3. 2. Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness

    Författare :Johan Lindqvist; Julien Ochala; Anders Arner; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal muscle; skeletal muscle contraction; atrophy; nemaline myopathy; myofibrillar myopathy; myosin; actin;

    Sammanfattning : Congenital myopathies are a rare and heterogeneous group of diseases. They are primarily characterised by skeletal muscle weakness and disease-specific pathological features. They harshly limit ordinary life and in severe cases, these myopathies are associated with early death of the affected individuals. LÄS MER

  4. 3. Cellular and Molecular Mechanisms Underlying Acute Quadriplegic Myopathy : Studies in Experimental Animal Models and Intensive Care Unit Patients

    Författare :Holly Norman; Lars Larsson; Thomas Sejersen; Uppsala universitet; []
    Nyckelord :Neurosciences; Acute Quadriplegic Myopathy; intensive care unit; atrophy; myosin heavy chain; actin; myosin binding proteins; nuclear transcription factors; mRNA; Neurovetenskap;

    Sammanfattning : The combination of a severe systemic illness, corticosteroids, and neuromuscular blocking agents in patients on the mechanical ventilator often results in a condition known as Acute Quadriplegic Myopathy (AQM). While severe weakness of all spinal nerve innervated muscles is known to be a significant clinical characteristic of the disease, this symptom is typically not recognized until the disease has progressed to an advanced stage. LÄS MER

  5. 4. The muscle cytoskeleton of mice and men : Structural remodelling in desmin myopathies

    Författare :Lena Carlsson; Lars-Eric Thornell; Anders Arnér; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; desmin; nestin; synemin; paranemin; plectin; αB-crystallin; skeletal muscle; heart muscle; myotendinous junction; motor endplate; costamere; anatomi; Human Anatomy;

    Sammanfattning : The muscle fibre cytoskeleton of skeletal and heart muscle cells is composed mainly of intermediate filaments (IFs), that surround the myofibrils and connect the peripheral myofibrils with the sarcolemma and the nuclear membrane. Desmin is the first muscle specific IF protein to be produced in developing muscles and is the main IF protein in mature muscles. LÄS MER