Sökning: "myopathy"
Visar resultat 1 - 5 av 51 avhandlingar innehållade ordet myopathy.
1. Sarcoplasmic body myopathy
Sammanfattning : In 1980 a new hereditary myopathy with adult onset was described in a swedish family. The most characteristic feature of this myopathy was the sarcoplasmic inclusion bodies (SB), seen in the muscle biopsies. Distal muscle weakness seemed to be the most prominent early symptom. LÄS MER
2. Myosin myopathy. A new disease entity
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. Muscle diseases with damaged sarcomeres - causes and consequences
Sammanfattning : Muscle diseases, also called myopathies, are usually defined as diseases where the pathology is confined to the muscle itself. This excludes diseases caused by structural abnormalities in the peripheral nerve, from the anterior horn cell to the neuromuscular junction. LÄS MER
4. Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness
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
5. The use of monogenic disease to study basal and disease associated mechanisms with focus on NGF dependent pain insensitivity and ISCU myopathy
Sammanfattning : Monogenic diseases make excellent models for the study of gene functions and basal cellular mechanisms in humans. The aim of this thesis was to elucidate how genetic mutations affect the basal cellular mechanisms in the monogenic diseases Nerve growth factor (NGF) dependent pain insensitivity and Iron-Sulphur cluster assembly protein U (ISCU) myopathy. LÄS MER