Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 17 for Congenital myopathy
  1. 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
  2. STAC3 gene 
    ... W, Franzini-Armstrong C, Dirksen RT, Kuwada JY. Congenital myopathy results from misregulation of a muscle Ca2+ channel ... Treves S, Muntoni F. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. ...
    https://medlineplus.gov/genetics/gene/stac3 - Genetics
  3. ACTA1 gene 
    ... Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord. 2009 Jan;19(1):6-16. ... Neuen-Jacob E, Mayatepek E, Voit T. Nemaline myopathy with exclusively ... are one cause of congenital fibre type disproportion. Ann Neurol. 2004 Nov;56( ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  4. TPM3 gene 
    ... previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat. 2014 Jul;35(7):779-90. ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  5. 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
  6. 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
  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. 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
  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 ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  10. CAVIN1 gene 
    ... Dirik E, Turkmen M, Agarwal AK, Garg A. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. Am J Med ...
    https://medlineplus.gov/genetics/gene/cavin1 - Genetics
previous · 1 · 2 · next