Search for dissertations about: "Myosin storage myopathy"

Found 2 swedish dissertations containing the words Myosin storage myopathy.

  2. 1. 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

  4. 2. Study the role of patient-specific mutations by genetic disease modeling : From gene to function; A study to understand muscles

    Author : Martin Dahl-Halvarsson; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Muscles; Myosin; MYH7; Myosin storage myopathy; Laing early-onset myopathy; Drosophila; TOR1A; DYT1; HCM; heart disease;

    Abstract : Many genetic diseases inherited in a dominant fashion have a complex pathological pattern. TOR1A mediated Dystonia-1 (DYT1) is an example of incomplete penetrance, affecting only a third of the carriers. READ MORE