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Results 1 - 10 of 16 for CONGENITAL MYOPATHY 26
  1. Centronuclear myopathy 
    ... H. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119. Citation on PubMed
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  2. ZMPSTE24 gene 
    ... N, Bonne G. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/zmpste24 - Genetics
  3. 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
  4. Rigid spine muscular dystrophy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CONGENITAL MYOPATHY 3 WITH RIGID SPINE; CMYO3 PubMed Ardissone A, ... S, Fauroux B. Diaphragmatic dysfunction in SEPN1-related myopathy. Neuromuscul ... Apr 26. Citation on PubMed Castets P, Bertrand AT, Beuvin ...
    https://medlineplus.gov/.../condition/rigid-spine-muscular-dystrophy - Genetics
  5. 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
  6. 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.1312520111. Epub 2014 Mar 3. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../condition/tubular-aggregate-myopathy - Genetics
  7. STIM1 gene 
    ... STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  8. 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
  9. GNE gene 
    ... update for GNE gene variants associated with GNE myopathy. Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Citation on PubMed ... 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
  10. 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
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