Search for dissertations about: "Myosin storage myopathy"
Found 2 swedish dissertations containing the words Myosin storage myopathy.
-
1. Myosin myopathy. A new disease entity
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
-
2. Study the role of patient-specific mutations by genetic disease modeling : From gene to function; A study to understand muscles
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