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Results 1 - 4 of 4 for CONGENITAL MYOPATHY 25
  1. GNE gene 
    ... Group. Mutation in GNE is associated with severe congenital thrombocytopenia. ... Y, Niikawa N, Kishino T. Nonaka myopathy is caused by mutations in the UDP-N- ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  2. RYR1 gene 
    ... Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 Aug;130(Pt 8):2024-36. ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  3. ACTG2 gene 
    ... Hypoperistalsis Syndrome. Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: ... familial visceral myopathy. Gastroenterology. 2012 Dec;143(6):1482-1491.e3. ...
    https://medlineplus.gov/genetics/gene/actg2 - Genetics
  4. SCN4A gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital myasthenic syndrome More About This Health Condition Na( ... muscle sodium channels. Cell Mol Neurobiol. 2005 Nov;25(7):1075-92. doi: 10.1007/s10571-005- ...
    https://medlineplus.gov/genetics/gene/scn4a - Genetics