Sökning: "hereditary inclusion-body myopathy"

Hittade 3 avhandlingar innehållade orden hereditary inclusion-body myopathy.

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

    Författare :Niklas Darin; Göteborgs universitet; []
    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

  3. 2. Myosin myopathy. A new disease entity

    Författare :Homa Tajsharghi; Göteborgs universitet; []
    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

  4. 3. Welander distal myopathy : clinical and genetic studies

    Författare :Gabrielle Åhlberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :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