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Results 1 - 5 of 5 for Myofibrillar myopathy 5
  1. Myofibrillar myopathy 
    ... Testing Registry: Myofibrillar myopathy 4 Genetic Testing Registry: Myofibrillar myopathy 5 Genetic Testing Registry: Myofibrillar myopathy 6 Genetic Testing ...
    https://medlineplus.gov/genetics/condition/myofibrillar-myopathy - Genetics
  2. MYOT gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/myot - Genetics
  3. Hereditary myopathy with early respiratory failure 
    ... failure National Organization for Rare Disorders (NORD) ... with misfolding of the titin fibronectin III 119 subdomain. Neuromuscul Disord. 2014 May;24(5):373-9. doi: 10.1016/j.nmd.2014. ...
    https://medlineplus.gov/...y-myopathy-with-early-respiratory-failure - Genetics
  4. FHL1 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/fhl1 - Genetics
  5. Limb-girdle muscular dystrophy 
    ... grouping them with different, related disorders, such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics