These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [McArdle disease: report of four brothers with myophosphorylase deficiency].
    Author: López Martín A, Baños Madrid RI, García-Estañ Candela J, García Pérez B, Pérez Bautista FJ, Salmerón P.
    Journal: An Med Interna; 2001 Mar; 18(3):136-8. PubMed ID: 11594178.
    Abstract:
    Myophosphorylase deficiency, or McArdle disease, is an uncommon entity. The gene for human myophosphorylase has been cloned and is located on chromosome 11, in keeping with the autosomal recessive nature of the disease and there is an excess of male patients. The diagnosis is established by documentation of elevated glycogen content and reduced phosphorylase activity in biopsied muscle tissue. We report four cases with McArdle disease which were 16, 15, 11 and 5 years old. They were brothers, and they came to the hospital because of pain, cramps and myoglobinuria after exercise or infection; in the first case, a male patient, myoglobinuria caused acute renal failure. Three of them showed reduced phosphorylase activity in biopsied muscle tissue. We discuss the different therapeutic possibilities.
    [Abstract] [Full Text] [Related] [New Search]