Sökning: "rimmed vacuoles"

Visar resultat 1 - 5 av 6 avhandlingar innehållade orden rimmed vacuoles.

  1. 1. Welander distal myopathy : clinical and genetic studies

    Detta är en avhandling från Stockholm : Karolinska Institutet, Department of Clinical Neuroscience

    Författare :Gabrielle Åhlberg; Karolinska Institutet.; Karolinska Institutet.; [1998]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Welander distal myopathy; neurogenic component; rimmed vacuoles; linkage; chromosome 2p13; candidate genes; common founder; homozygous form; variable clinical expression;

    Sammanfattning : Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates. Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal distribution of muscular weakness. Most cases originate from the middle parts of Sweden. LÄS MER

  2. 2. Myosin myopathy. A new disease entity

    Detta är en avhandling från Göteborg

    Författare :Homa Tajsharghi; Göteborgs universitet.; Gothenburg University.; [2003]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; 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. Immunohistological studies on muscle biopsies : clinical and pathogenetic aspects on inflammatory myopathies

    Detta är en avhandling från Linköping : Linköpings universitet

    Författare :Björn Lindvall; Linköpings universitet.; Linköpings universitet.; Linköpings universitet.; [2002]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICINE; MEDICIN;

    Sammanfattning : Inflammatory myopathies constitute a heterogeneous group of disorders comprising polymyositis (PM), dermatomyositis (DM), inclusion body myositis (IBM), as well as overlap syndromes where inflammatory myopathy is associated with different inflammatory systemic diseases, e.g, Sjögren's syndrome. LÄS MER

  4. 4. Studies in sporadic inclusion body myositis

    Detta är en avhandling från Stockholm : Karolinska Institutet, Department of Clinical Neuroscience

    Författare :Snjólaug Arnardóttir; Karolinska Institutet.; Karolinska Institutet.; [2003]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; s-IBM; muscle fibre regeneration; cytoskeleton; IVIg; muscle inflammtion; cytokine; training; sensibility; neuropathy ;

    Sammanfattning : Aims: The general aims of the present study were to increase the understanding of the disease process in s-lBM by analysing the cytoskeletal structure in muscle fibres and their regeneration potential; and also to evaluate sensory function in patients with s-IBM to test the hypothesis of an associated neurogenic component or a concomitant neuropathy in s-IBM; and to evaluate therapeutic options by analysing the effect of IVIg treatment on the muscle inflammation; and to evaluate the effect of training on muscle function and muscle inflammation. Patients: Twenty-six patients with the diagnosis of s41BM participated in these studies. LÄS MER

  5. 5. Neuromuscular disorders in childhood. Epidemiology and characterization of a new myopathy

    Detta är en avhandling från Göteborg

    Författare :Niklas Darin; Göteborgs universitet.; Gothenburg University.; [2000]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuromuscular disorders; epidemiology; mitochondrial encephalomyopathy; hereditary inclusion-body myopathy; myosin heavy-chain IIa; childhood;

    Sammanfattning : Neuromuscular disorders can be subdivided into anterior horn cell disorders, neuropathies, myasthenic disorders and myopathies. Some multisystem disorders, such as myotonic dystrophy and mitochondrial encephalomyopathies, are traditionally also included. LÄS MER