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Novel mutation in the PYGM gene resulting in McArdle disease.

AbstractBACKGROUND:
McArdle disease is a common metabolic disorder characterized by marked exercise intolerance, premature fatigue during exertion, myalgia, and cramps. Despite the wide knowledge of the molecular basis of McArdle disease, few studies have used a physiological approach or explored the possibility of improving the exercise capacity of these patients.
OBJECTIVES:
To describe 3 unrelated patients with McArdle disease with a novel mutation in the PYGM gene and to assess the physical capacity in 1 of them.
DESIGN:
Using molecular genetic approaches, we identified the underlying molecular defect in 3 patients with McArdle disease. Physical performance was evaluated in 1 patient by means of an exercise tolerance test on a bicycle ergometer.
SETTING:
Two university hospitals. Exercise physiology studies were performed in a university department. Patients The 3 patients showed common features of McArdle disease. They were definitively diagnosed by histochemistry, biochemistry, or molecular genetic analysis.
RESULTS:
All of the 3 patients were genetic compounds for the common Arg50Stop mutation and a novel c.13_14delCT mutation in the PYGM gene. The peak oxygen uptake (VO(2peak)) of the patient who performed the exercise test was only 20.2 mL x kg(-1) x min(-1).
CONCLUSIONS:
Together with the novel mutation, there is a markedly decreased exercise capacity in a patient with McArdle disease, which could account for the profound alteration in the capacity for performing normal activities of daily living in this subpopulation.
AuthorsJuan C Rubio, Alejandro Lucia, Israel Fernández-Cadenas, Ana Cabello, Alberto Blázquez, Josep Gámez, Antoni L Andreu, Miguel A Martín, Joaquin Arenas
JournalArchives of neurology (Arch Neurol) Vol. 63 Issue 12 Pg. 1782-4 (Dec 2006) ISSN: 0003-9942 [Print] United States
PMID17172620 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Glycogen Phosphorylase
Topics
  • Adult
  • Anaerobic Threshold (physiology)
  • Electrocardiography
  • Exercise Test
  • Exercise Tolerance (physiology)
  • Female
  • Glycogen Phosphorylase (genetics)
  • Glycogen Storage Disease Type V (genetics)
  • Heart Rate (physiology)
  • Humans
  • Mutation (physiology)
  • Oxygen Consumption (physiology)
  • Reverse Transcriptase Polymerase Chain Reaction

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