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Results 1 - 10 of 13 for Congenital myopathy 11
  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.1312520111. Epub ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  2. STAC3 gene 
    ... Treves S, Muntoni F. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Citation on PubMed
    https://medlineplus.gov/genetics/gene/stac3 - Genetics
  3. TPM3 gene 
    ... previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum ... J Mol Med (Berl). 2008 Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380- ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  4. SELENON gene 
    ... The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol. 2008 May;12(3): ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  5. ACTA1 gene 
    ... Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord. 2009 Jan;19(1):6-16. ... J. Thin filament proteins mutations associated with skeletal myopathies: ... J Mol Med (Berl). 2008 Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380- ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  6. 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
  7. 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
  8. ZMPSTE24 gene 
    ... N, Bonne G. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J ...
    https://medlineplus.gov/genetics/gene/zmpste24 - Genetics
  9. TTN gene 
    ... suggest that early-onset forms of titin-related muscle disorders be grouped as congenital titinopathy. Often, fetuses with this condition move less ... 1 to the M-band: implications for hereditary myopathies. J Cell Sci. 2008 Jun 1;121(11):1841-51. doi: 10.1242/jcs.028019. Epub ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  10. COL6A1 gene 
    ... in the COL6A1 gene of patients with Bethlem myopathy. Neurology. 2005 Jun 14;64(11):1931-7. doi: 10.1212/01.WNL.0000163990. ...
    https://medlineplus.gov/genetics/gene/col6a1 - Genetics
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