Sökning: "MYH7"

Hittade 3 avhandlingar innehållade ordet MYH7.

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

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

    Sammanfattning : 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. 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. Genetic studies of zebrafish muscles : clues to protection in muscle disease

    Författare :Nils Dennhag; Fatima Pedrosa Domellöf; Jonas von Hofsten; Tatjana Haitina; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; zebrafish; muscle; extraocular muscles; intermediate filaments; bioinformatics; genetics; CRISPR Cas9; oftalmiatrik; ophthalmology; cellforskning; cell research;

    Sammanfattning : Muscular dystrophies (MDs) are caused by dysregulation of over 40 proteins but commonly share features of muscle weakness, myofiber death and regeneration, loss of ambulation and premature death. A MD involves a broken link anywhere in the connection from extracellular matrix through the sarcolemma to the sarcomere. LÄS MER