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Results 1 - 10 of 12 for Congenital structural myopathy
  1. Muscular Dystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    National Institute of Neurological Disorders and Stroke ... Muscular Dystrophy/Start Here ... Muscular Dystrophy ... Muscular dystrophy (MD) refers to a group of genetic ...
    https://www.ninds.nih.gov/.../disorders/muscular-dystrophy - External Health Links
  2. 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
  3. 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
  4. 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
  5. Collagen VI-related dystrophy 
    ... Testing Registry: Ullrich congenital muscular dystrophy 1A Bethlem myopathy Congenital muscular dystrophy, Ullrich type National Organization for Rare ...
    https://medlineplus.gov/.../condition/collagen-vi-related-myopathy - Genetics
  6. Heart Murmurs and Your Child (For Parents) (Nemours Foundation)  
    Nemours Foundation ... Congenital Heart Defects/Related Issues ... Congenital Heart Defects ... Heart Valve Diseases/Children ... Heart Valve Diseases ... heart murmurs, murmur, ...
    https://kidshealth.org/en/parents/murmurs.html - External Health Links
  7. COL6A2 gene 
    ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24. Citation on PubMed Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 ...
    https://medlineplus.gov/genetics/gene/col6a2 - Genetics
  8. COL6A1 gene 
    ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24. Citation on PubMed Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 ...
    https://medlineplus.gov/genetics/gene/col6a1 - Genetics
  9. COL6A3 gene 
    ... VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24. Citation on PubMed Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011 ...
    https://medlineplus.gov/genetics/gene/col6a3 - Genetics
  10. ACTG2 gene 
    ... actin gamma-2 with autosomal dominant familial visceral myopathy. Gastroenterology. 2012 Dec;143(6):1482-1491.e3. ... S, Tekin M. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. Hum Genet. ...
    https://medlineplus.gov/genetics/gene/actg2 - Genetics
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