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Results 1 - 10 of 26 for Congenital myopathy 23
  1. Nemaline myopathy 
    ... Testing Registry: Actin accumulation myopathy Genetic Testing Registry: Congenital myopathy 23 Genetic Testing Registry: Congenital myopathy 4B, autosomal recessive ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  2. Cap myopathy 
    ... Disorders (NORD) CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYP4B CONGENITAL MYOPATHY 23; CMYP23 PubMed Clarke NF, Domazetovska A, Waddell L, ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  3. STAC3 disorder 
    ... American myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 13; CMYP13 PubMed Campiglio M, Flucher BE. STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads. Sci Rep. 2017 Jan 23;7:41003. doi: 10.1038/srep41003. Citation on ...
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  4. Collagen VI-related dystrophy 
    ... Rare Disorders (NORD) BETHLEM MYOPATHY 1A; BTHLM1A ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A PubMed Allamand V, Brinas L, Richard P, 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- ...
    https://medlineplus.gov/.../condition/collagen-vi-related-myopathy - Genetics
  5. 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
  6. Congenital fiber-type disproportion 
    ... type disproportion have an affected relative. CFTD CFTDM Congenital myopathy with fiber type disproportion Genetic Testing Registry: Congenital myopathy with fiber type disproportion Congenital fiber-type disproportion ...
    https://medlineplus.gov/.../congenital-fiber-type-disproportion - Genetics
  7. Actin-accumulation myopathy 
    ... their family. Actin filament aggregate myopathy Actin myopathy Congenital myopathy with excess of thin filaments Nemaline myopathy 3 ... accumulation myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYP2A PubMed Bornemann A, ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  8. Centronuclear myopathy 
    ... Genetic Testing Registry: Centronuclear myopathy Genetic Testing Registry: Congenital myopathy with internal nuclei and atypical cores Genetic Testing ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  9. 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
  10. 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
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