title: Muscle fiber type proportion and size is not altered in mcardle disease.
abstract: McArdle disease is a metabolic myopathy that presents with exercise intolerance and episodic rhabdomyolysis. Excessive muscle recruitment has also been shown to be present during strenuous exercise, suggesting decreased power output. These findings could potentially be explained by either impaired contractility, decreased fiber size, or altered fiber type proportion. However, there is a paucity of data on the morphological features seen on muscle histology.
  
  
  
  We examined muscle biopsies of patients with McArdle disease from a Spanish cohort and compared the findings with healthy controls.
  
  
  
  We found no significant difference in the fiber type proportion or mean fiber size between McArdle patients and controls in the biceps brachii or vastus lateralis muscles.
  
  
  
  No alterations in muscle fiber type proportion or size were found on muscle histology of patients with McArdle disease. Future research should focus on assessment of muscle fiber contractility to investigate the functional impairment. Muscle Nerve 55: 916-918, 2017.
authors.affiliation: Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands, 7725, South Africa.|Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, South Africa.
authors.forename: Franclo
authors.initials: F
authors.lastname: Henning
authors.affiliation: Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands, 7725, South Africa.
authors.forename: Carol Anne
authors.initials: CA
authors.lastname: Cunninghame
authors.affiliation: Mitochondrial and Neuromuscular Diseases Laboratory, Hospital 12 de Octubre, Madrid, Spain.|Instituto de Investigación, Hospital 12 de Octubre (i+12), Madrid, Spain.|Spanish Center for Biomedical Research in Rare Diseases (CIBERER), Madrid, Spain.
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Martín
authors.affiliation: Mitochondrial and Neuromuscular Diseases Laboratory, Hospital 12 de Octubre, Madrid, Spain.|Instituto de Investigación, Hospital 12 de Octubre (i+12), Madrid, Spain.|Spanish Center for Biomedical Research in Rare Diseases (CIBERER), Madrid, Spain.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Rubio
authors.affiliation: Mitochondrial and Neuromuscular Diseases Laboratory, Hospital 12 de Octubre, Madrid, Spain.|Instituto de Investigación, Hospital 12 de Octubre (i+12), Madrid, Spain.
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
authors.affiliation: Instituto de Investigación, Hospital 12 de Octubre (i+12), Madrid, Spain.|European University of Madrid, Madrid, Spain.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
authors.affiliation: Instituto de Investigación, Hospital 12 de Octubre (i+12), Madrid, Spain.|Neuropathology Department, Hospital 12 de Octubre, Madrid, Spain.
authors.forename: Aurelio
authors.initials: A
authors.lastname: HernáNdez-Laín
authors.affiliation: Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands, 7725, South Africa.
authors.forename: Tertius Abraham
authors.initials: TA
authors.lastname: Kohn
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D015331:Cohort Studies; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000145:classification / Q000473:pathology / Q000502:physiology; D055815:Young Adult
keywords: McArdle disease; cross-sectional area; glycogen storage disease V; glycogenoses; metabolic disease (inherited)