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Results 1 - 10 of 37 for Congenital myopathy 15
  1. 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
  2. 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
  3. 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
  4. Myosin storage myopathy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... myosin storage myopathy via multiple mechanisms. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6291-6. doi: 10.1073/pnas.0900107106. Epub ...
    https://medlineplus.gov/genetics/condition/myosin-storage-myopathy - Genetics
  5. Central core disease 
    ... Sewry C, Phadke R, Gautel M, Muntoni F. Congenital myopathies: disorders of ... core disease. Orphanet J Rare Dis. 2007 May 15;2:25. doi: 10.1186/1750-1172-2- ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  6. Tubular aggregate myopathy 
    ... reticulum in skeletal myotubes. Biochem J. 2013 Jul 15;453(2):187-200. doi: ... of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. ...
    https://medlineplus.gov/.../condition/tubular-aggregate-myopathy - Genetics
  7. ZMPSTE24 gene 
    ... with disease severity. Hum Mol Genet. 2012 Sep 15;21(18):4084-93. doi: ... with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J ...
    https://medlineplus.gov/genetics/gene/zmpste24 - Genetics
  8. Cap myopathy 
    ... of the disorder in their family. Cap disease Congenital myopathy with caps Cap myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B CONGENITAL MYOPATHY 23; CMYO23 ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  9. STAC3 disorder 
    ... Native American myopathy Genetic Testing Registry: Bailey-Bloch congenital myopathy Native American myopathy National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  10. 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
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