title: Glycogen storage disease type V (Mc Ardle's disease): a report on three cases.
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.
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Naveen
authors.initials: N
authors.lastname: Krishnamoorthy
authors.forename: Vani
authors.initials: V
authors.lastname: Santosh
authors.forename: T C
authors.initials: TC
authors.lastname: Yasha
authors.forename: Anita
authors.initials: A
authors.lastname: Mahadevan
authors.forename: S K
authors.initials: SK
authors.lastname: Shankar
authors.forename: Dilip
authors.initials: D
authors.lastname: Jethwani
authors.forename: A B
authors.initials: AB
authors.lastname: Taly
authors.forename: K
authors.initials: K
authors.lastname: Bhanu
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood; D015444:Exercise / Q000502:physiology; D024982:Glycogen Phosphorylase, Muscle Form / Q000378:metabolism*; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis / Q000201:enzymology / Q000503:physiopathology; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D055815:Young Adult
chemical_list: D024982:Glycogen Phosphorylase, Muscle Form; D003402:Creatine Kinase