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Results 1 - 10 of 13 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. Central core disease 
    ... Sewry C, Phadke R, Gautel M, Muntoni F. Congenital myopathies: disorders of ... Orphanet J Rare Dis. 2007 May 15;2:25. doi: 10.1186/1750-1172-2-25. Citation ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  3. Centronuclear myopathy 
    ... myotubular) myopathy. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: ... congenital myopathy with prominent internal nuclei and atypical cores. Am ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  4. Congenital fiber-type disproportion 
    ... type disproportion have an affected relative. CFTD CFTDM Congenital myopathy with fiber type disproportion Genetic Testing Registry: Congenital myopathy with fiber type disproportion Congenital fiber-type disproportion ...
    https://medlineplus.gov/.../congenital-fiber-type-disproportion - Genetics
  5. Nemaline myopathy 
    ... Testing Registry: Actin accumulation myopathy Genetic Testing Registry: Congenital myopathy 23 Genetic Testing Registry: Congenital myopathy 4B, autosomal ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  6. 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
  7. Myotonia congenita 
    ... autosomal recessive form Genetic Testing Registry: Batten-Turner congenital myopathy Thomsen and Becker disease National Organization for Rare ...
    https://medlineplus.gov/genetics/condition/myotonia-congenita - Genetics
  8. Collagen VI-related dystrophy 
    ... Testing Registry: Ullrich congenital muscular dystrophy 1A Bethlem myopathy Congenital muscular dystrophy, Ullrich type National Organization for Rare ...
    https://medlineplus.gov/.../condition/collagen-vi-related-myopathy - Genetics
  9. LAMA2-related muscular dystrophy 
    ... It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular ... Born AP, Duno M, Vissing J. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle Nerve. 2015 ...
    https://medlineplus.gov/.../lama2-related-muscular-dystrophy - Genetics
  10. 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
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