Sökning: "Myosin myopathy"

Visar resultat 1 - 5 av 19 avhandlingar innehållade orden Myosin myopathy.

1. 1. 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

3. 2. Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness

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

   Sammanfattning : 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. LÄS MER

4. 3. 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

5. 4. Cellular and Molecular Mechanisms Underlying Acute Quadriplegic Myopathy : Studies in Experimental Animal Models and Intensive Care Unit Patients

   Författare :Holly Norman; Lars Larsson; Thomas Sejersen; Uppsala universitet; []
   Nyckelord :Neurosciences; Acute Quadriplegic Myopathy; intensive care unit; atrophy; myosin heavy chain; actin; myosin binding proteins; nuclear transcription factors; mRNA; Neurovetenskap;

   Sammanfattning : The combination of a severe systemic illness, corticosteroids, and neuromuscular blocking agents in patients on the mechanical ventilator often results in a condition known as Acute Quadriplegic Myopathy (AQM). While severe weakness of all spinal nerve innervated muscles is known to be a significant clinical characteristic of the disease, this symptom is typically not recognized until the disease has progressed to an advanced stage. LÄS MER

7. 5. Celluar and Molecular Mechanisms Underlying Regulation of Skeletal Muscle Contraction in Health and Disease

   Författare :Mingxin Li; Lars Larsson; Tomas Winkler; Alf Månsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Scaling; myosin heavy chain; in vitro motility assay; myopathy; Clinical neurophysiology; Klinisk neurofysiologi; Neuroscience; Neurovetenskap;

   Sammanfattning : Morphological changes, genetic modifications, and cell functional alterations are not always parallel. Therefore, assessment of skeletal muscle function is an integral part of the etiological approach. LÄS MER