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Results 1 - 7 of 7 for Congenital myopathy 18
  1. STIM1 gene 
    ... STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. doi: 10.1073/pnas. ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  2. RYR1 gene 
    ... doi: 10.1093/brain/awl077. Epub 2006 Apr 18. Citation on PubMed ... in RYR1-related congenital myopathies. Brain. 2007 Aug;130(Pt 8):2024-36. ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  3. ZMPSTE24 gene 
    ... severity. Hum Mol Genet. 2012 Sep 15;21(18):4084-93. doi: 10.1093/hmg/dds233. ... with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J ...
    https://medlineplus.gov/genetics/gene/zmpste24 - Genetics
  4. TTN gene 
    ... suggest that early-onset forms of titin-related muscle disorders be grouped as congenital titinopathy. Often, fetuses with this condition move less ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  5. GNE gene 
    ... PubMed Mullen J, Alrasheed K, Mozaffar T. GNE myopathy: History, etiology, and treatment trials. Front Neurol. 2022 Oct 18;13:1002310. doi: 10.3389/fneur.2022.1002310. ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  6. MYH7 gene 
    ... to muscle weakness in people with myosin storage myopathy. More About This Health Condition MedlinePlus Genetics provides information about Congenital fiber-type disproportion More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  7. SCN4A gene 
    ... doi: 10.1073/pnas.0811277106. Epub 2009 Feb 18. Citation on PubMed or Free article on PubMed Central Maggi L, Bonanno S, Altamura C, Desaphy JF. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. Cells. 2021 Jun ...
    https://medlineplus.gov/genetics/gene/scn4a - Genetics