Search for dissertations about: "myopathy"

Showing result 1 - 5 of 51 swedish dissertations containing the word myopathy.

  2. 1. Sarcoplasmic body myopathy

    Author : Birgitta Hedberg; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : In 1980 a new hereditary myopathy with adult onset was described in a swedish family. The most characteristic feature of this myopathy was the sarcoplasmic inclusion bodies (SB), seen in the muscle biopsies. Distal muscle weakness seemed to be the most prominent early symptom. READ MORE

  4. 2. Myosin myopathy. A new disease entity

    Author : Homa Tajsharghi; Göteborgs universitet; []
    Keywords : Neuromuscular disorders; Myosin myopathy; Myosin heavy chain; Myosin storage myopathy;

    Abstract : 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. READ MORE

  5. 3. Muscle diseases with damaged sarcomeres - causes and consequences

    Author : Monica Ohlsson; Göteborgs universitet; []
    Keywords : congenital myopathy; nemaline myopathy; cap disease; hereditary myopathy with early respiratory failure; myofibrillar myopathy; ACTA1; TPM2; TPM3; TTN;

    Abstract : 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. READ MORE

  6. 4. Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness

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

    Abstract : 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. READ MORE

  7. 5. The use of monogenic disease to study basal and disease associated mechanisms with focus on NGF dependent pain insensitivity and ISCU myopathy

    Author : Elin Larsson; Monica Holmberg; Geoff Woods; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; monogenic; disease; NGF; receptor; pain insensitivity; ISCU; myopathy; splicing; molecular medicine medical sciences ; molekylär medicin medicinska vetenskaper ;

    Abstract : Monogenic diseases make excellent models for the study of gene functions and basal cellular mechanisms in humans. The aim of this thesis was to elucidate how genetic mutations affect the basal cellular mechanisms in the monogenic diseases Nerve growth factor (NGF) dependent pain insensitivity and Iron-Sulphur cluster assembly protein U (ISCU) myopathy. READ MORE