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Updated: May 25, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Glycogen storage disease type V (Mc Ardle's disease): a report on three cases
Naveen Krishnamoorthy1, Vani Santosh, T C Yasha
1Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.
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.
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