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Results 1 - 10 of 10 for Congenital myopathy 23
  1. TPM3 gene 
    ... Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann ... Epub 2009 Jun 23. Citation on PubMed Imoto C, Nonaka I. The ...
    https://medlineplus.gov/genetics/gene/tpm3 - 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. 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
  4. 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
  5. COL6A1 gene 
    ... Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1- ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol ... collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 ...
    https://medlineplus.gov/genetics/gene/col6a1 - Genetics
  6. COL6A3 gene 
    ... Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1- ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol ... collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 ...
    https://medlineplus.gov/genetics/gene/col6a3 - Genetics
  7. GNE gene 
    ... Soffer D, Mitrani-Rosenbaum S. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology. 2003 May 13;60(9):1519-23. doi: 10.1212/01.wnl.0000061617.71839.42. ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  8. COL6A2 gene 
    ... Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1- ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol ... collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 ...
    https://medlineplus.gov/genetics/gene/col6a2 - Genetics
  9. MYH7 gene 
    ... to muscle weakness in people with myosin storage myopathy. More About This Health Condition MedlinePlus Genetics provides information about Congenital fiber-type disproportion More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  10. SCN4A gene 
    ... doi: 10.1073/pnas.1230273100. Epub 2003 May 23. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/scn4a - Genetics