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Results 1 - 5 of 5 for Congenital myopathy 20
  1. RYR1 gene 
    ... Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  2. ACTA1 gene 
    ... Genotype-phenotype correlations in ACTA1 mutations that cause congenital ... gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd. ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  3. SELENON gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital fiber-type disproportion More About This Health Condition Mutations in the SELENON gene are involved in another rare muscle disorder called desmin-related myopathy with Mallory body-like ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  4. TPM3 gene 
    ... previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat. 2014 Jul;35(7):779-90. ... for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd. ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  5. MYH7 gene 
    ... 8. doi: 10.1086/424760. Epub 2004 Aug 20. Citation on PubMed or Free article on PubMed Central Oldfors A. Hereditary myosin myopathies. Neuromuscul Disord. 2007 May;17(5):355-67. ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics