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Results 1 - 5 of 5 for Glycogen storage "disease," type V
  1. PYGM gene 
    ... the PYGM gene have been found to cause glycogen storage disease type V (GSDV). One mutation that is common in North American and European populations is written as Arg50Ter or R50X. This mutation ... of glycogen. Other mutations that cause GSDV may severely reduce ...
    https://medlineplus.gov/genetics/gene/pygm - Genetics
  2. PYGL gene 
    ... ClinVar Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ. High frequency of missense mutations in glycogen storage disease type VI. J Inherit Metab Dis. 2007 Oct;30( ...
    https://medlineplus.gov/genetics/gene/pygl - Genetics
  3. GBE1 gene 
    ... C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, ... storage disease type IV: a review of clinical, enzymatic and molecular ...
    https://medlineplus.gov/genetics/gene/gbe1 - Genetics
  4. GAA gene 
    ... glucosidase, alpha; acid glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) LYAG LYAG_HUMAN lysosomal alpha-glucosidase Tests ... gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat. 2006 Oct;27(10):999- ...
    https://medlineplus.gov/genetics/gene/gaa - Genetics
  5. GYS1 gene 
    ... have been found to cause a form of glycogen storage disease type 0 (GSD 0) that affects cardiac and skeletal muscle. Most GYS1 gene mutations that cause this condition lead to a lack of functional muscle glycogen synthase, resulting in a complete absence of glycogen ...
    https://medlineplus.gov/genetics/gene/gys1 - Genetics