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Myofibrillar myopathy 3
- ... Genetic Testing Registry: Myofibrillar myopathy Genetic Testing Registry: Myofibrillar myopathy 3 Myofibrillar myopathy National Organization for Rare Disorders (NORD) ...
- ... ClinVar Ferrer I, Olive M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. Citation on ...
- ... PubMed Ferrer I, Olive M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. Citation on ...
- ... ClinVar Ferrer I, Olive M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. Citation on ...
- ... mutations have been associated with the FHL1-related myopathies. Each of these mutations affects some or all of the FHL1 isoforms. In general, mutations that affect all three isoforms cause more severe signs and symptoms than ...
- ... with early respiratory muscle involvement Genetic Testing Registry: Myopathy, myofibrillar, 9, with early respiratory failure Hereditary myopathy with ...
- ... grouping them with different, related disorders, such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or ...