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Myofibrillar myopathy 5
- ... 2 MYOPATHY, MYOFIBRILLAR, 3 MYOPATHY, MYOFIBRILLAR, 4 MYOPATHY, MYOFIBRILLAR, 5 MYOPATHY, MYOFIBRILLAR, 6 PubMed Ferrer I, Olive M. Molecular pathology ...
- ... repeated cycles of contraction and relaxation. At least five mutations in the MYOT gene have been found to cause myofibrillar myopathy. Most of these mutations are located in an ...
- ... InfoSearch National Organization for Rare Disorders (NORD) MYOPATHY, ... fibronectin III 119 subdomain. Neuromuscul Disord. 2014 May;24(5):373-9. doi: 10.1016/j.nmd.2014. ...
- ... myopathy consortium. 199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands. Neuromuscul Disord. 2014 May;24(5):453-62. doi: 10.1016/j.nmd.2014. ...
- ... grouping them with different, related disorders, such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or ...