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Results 1 - 7 of 7 for Myofibrillar myopathy 3
  1. ... Genetic Testing Registry: Myofibrillar myopathy Genetic Testing Registry: Myofibrillar myopathy 3 Myofibrillar myopathy National Organization for Rare Disorders (NORD) ...
  2. ... 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 ...
  3. ... 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 ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... with early respiratory muscle involvement Genetic Testing Registry: Myopathy, myofibrillar, 9, with early respiratory failure Hereditary myopathy with ...
  7. ... grouping them with different, related disorders, such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or ...