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Results 31 - 35 of 35 for Skeletal myopathy
  1. SELENON gene 
    ... A, Guicheney P, Allamand V. Selenoprotein N in skeletal muscle: from diseases to function. J Mol Med ( ... Richard P, Guicheney P, Bonnemann CG. Desmin-related myopathy with Mallory body-like inclusions is caused by ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  2. PHKA1 gene 
    ... HUMAN PHKA phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform phosphorylase kinase alpha M subunit phosphorylase ... C, Storm K, de Barsy T, Martin JJ. Myopathy and phosphorylase kinase deficiency caused by a mutation ...
    https://medlineplus.gov/genetics/gene/phka1 - Genetics
  3. ATP2A1 gene 
    The ATP2A1 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 1 (SERCA1). This enzyme belongs to a family ...
    https://medlineplus.gov/genetics/gene/atp2a1 - Genetics
  4. STIM1 gene 
    ... endoplasmic reticulum Ca(2)(+)-ATPase 1a (SERCA1a) in skeletal muscle. Pflugers Arch. 2014 May;466(5):987- ... Ca(2)(+) release from the sarcoplasmic reticulum in skeletal myotubes. Biochem J. 2013 Jul 15;453(2): ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  5. PGAM2 gene 
    ... produced from this gene is found predominantly in skeletal muscle cells. (Skeletal muscles are the muscles used for movement.) Another ... of phosphoglycerate mutase, which disrupts energy production in skeletal muscle cells. This defect underlies the muscle cramping, ...
    https://medlineplus.gov/genetics/gene/pgam2 - Genetics
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