We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Glycogen storage disease type V (Mc Ardle's disease): A report on three cases.
- Authors
Krishnamoorthy, Naveen; Santosh, Vani; Yasha, T. C.; Mahadevan, Anita; Shankar, S. K.; Jethwani, Dilip; Taly, A. B.; Bhanu, K.; Gayathri, N.
- Abstract
McArdle's disease (myophosphorylase deficiency), an uncommon autosomal recessive metabolic disorder, is characterized clinically by exercise intolerance beginning in childhood, myalgia, cramps, exercise-induced rhabdomyolysis, "second wind" phenomenon, elevated Creatine Kinase (CK) levels at rest, and previous episodes of raised CK levels following exercise. Several mutations in the PYGM gene and geographic variations have been described. We report three biopsy confirmed cases of McArdle's disease.
- Subjects
MCARDLE'S disease; METABOLIC disorders; MYALGIA; RHABDOMYOLYSIS; CREATINE kinase; ADENOSINE diphosphate; ADENOSINE triphosphate
- Publication
Neurology India, 2011, Vol 59, Issue 6, p884
- ISSN
0028-3886
- Publication type
Article
- DOI
10.4103/0028-3886.91370