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Results 1 - 10 of 15 for Congenital myopathy 15
  1. COL6A1 gene 
    ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24. Citation on PubMed Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 ...
    https://medlineplus.gov/genetics/gene/col6a1 - Genetics
  2. COL6A2 gene 
    ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24. Citation on PubMed Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 ...
    https://medlineplus.gov/genetics/gene/col6a2 - Genetics
  3. COL6A3 gene 
    ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24. Citation on PubMed Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 ...
    https://medlineplus.gov/genetics/gene/col6a3 - Genetics
  4. ZMPSTE24 gene 
    ... with disease severity. Hum Mol Genet. 2012 Sep 15;21(18):4084-93. doi: ... with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J ...
    https://medlineplus.gov/genetics/gene/zmpste24 - Genetics
  5. SELENON gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital fiber-type disproportion More About This Health Condition Mutations in the SELENON gene are involved in another rare muscle disorder called desmin-related myopathy with Mallory body-like ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  6. ACTA1 gene 
    ... Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord. 2009 Jan;19(1):6-16. ... the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscul Disord. 2005 Dec;15(12):829-35. doi: 10.1016/j.nmd. ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  7. TPM2 gene 
    ... Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A. Congenital myopathy with nemaline rods and cap structures caused by ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  8. TPM3 gene 
    ... previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat. 2014 Jul;35(7):779-90. ... for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15. Citation on PubMed
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  9. 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
  10. 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
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