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: Myophosphorylase deficiency: an unusually severe form with myoglobinuria.
    Author: Kristjánsson K, Tsujino S, DiMauro S.
    Journal: J Pediatr; 1994 Sep; 125(3):409-10. PubMed ID: 8071750.
    Abstract:
    Myophosphorylase deficiency (McArdle disease) is characterized by exercise intolerance that usually starts in childhood. Severe cramps and myoglobinuria are rarely problems in children. We describe an 8-year-old boy with exercise-induced myoglobinuria; he was homozygous for the mutation most commonly encountered in patients with typical McArdle disease.
    [Abstract] [Full Text] [Related] [New Search]