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Results 1 - 10 of 28 for Congenital myopathy 23
  1. ... Testing Registry: Actin accumulation myopathy Genetic Testing Registry: Congenital myopathy 23 Genetic Testing Registry: Congenital myopathy 4B, autosomal recessive ...
  2. ... Disorders (NORD) CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B CONGENITAL MYOPATHY 23; CMYO23 PubMed Clarke NF, Domazetovska A, Waddell L, ...
  3. ... American myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 13; CMYO13 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 ...
  4. ... 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- ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... 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; CMYO2A PubMed Bornemann A, ...
  8. ... Genetic Testing Registry: Centronuclear myopathy Genetic Testing Registry: Congenital myopathy with internal nuclei and atypical cores Genetic Testing ...
  9. ... 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. ...
  10. ... Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A. Congenital myopathy with nemaline rods and cap structures caused by ...
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