Scientific publications
McArdle's disease. Apropos of a case
Feb 1, 1998
| Magazine: Revista de Medicina de la Universidad de Navarra
Yuste JR, Beloqui O, De la Peña A, Rodríguez-Rosado R, Monreal JI, Prósper F, Prieto J.
McArdle's disease (glycogenosis type V) is a metabolic disorder of hydrocarbons, inherited with autosomic recessive pattern.
Biochemically is defined by a myophosphorylase deficiency; clinically it is characterized by exercise intolerance, due to the impossibility of providing energetic substrate to the muscle, myalgias and stiffness.
We present a case report of a patient with McArdle's disease and we comment the diagnostic procedures and current therapeutic options.
CITATION Rev Med Univ Navarra. 1998 Jan-Mar;42(1):29-33
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