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Results 1 - 10 of 26 for Congenital myopathy 18
  1. Tubular aggregate myopathy 
    ... 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/.../condition/tubular-aggregate-myopathy - Genetics
  2. Stormorken syndrome 
    ... 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/condition/stormorken-syndrome - Genetics
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. Central core disease 
    ... thought to be the most common of the congenital myopathies, which are a group of muscle disorders that ... weakness very early in life. As a group, congenital myopathies affect 6 per 100,00 newborns. Mutations in ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  9. Myosin storage myopathy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYO7A PubMed Armel ... mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul ... Acta Neuropathol. 2013 Jan;125(1):3-18. doi: 10.1007/s00401-012-1024-2. Epub ...
    https://medlineplus.gov/genetics/condition/myosin-storage-myopathy - Genetics
  10. 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
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