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Results 1 - 8 of 8 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. 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
  4. 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
  5. 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
  6. 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
  7. Intestinal pseudo-obstruction 
    ... condition. Chronic idiopathic intestinal pseudo-obstruction CIIP CIPO Congenital short bowel syndrome Enteric neuropathy Familial visceral myopathy Familial visceral neuropathy IPO Paralytic ileus Pseudo-obstruction ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  8. Myotonic dystrophy 
    ... review. Muscle Nerve. 2005 Jul;32(1):1-18. doi: 10.1002/mus.20301. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics