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From the Laboratoire d'Anatomie Pathologique et Neuropathologie (C.F., A.M., D.F.-B., J.-F.P.), Laboratoire de Génétique (M.K.), Laboratoire de Biochimie (M.-F.M.), Service de Neurologie et Maladies Neuromusculaires (J.P.), Hôpital de la Timone Adultes, Marseille; LERTIM (R.G.), Faculté de Médecine, Marseille; and Service de Neuropédiatrie (B.C.), Hôpital de la Timone Enfants, Marseille, France.
Address correspondence and reprint requests to Dr. Jean-François Pellissier, Laboratoire d'Anatomie Pathologique et Neuropathologie, Hôpital de la Timone, 264 rue Saint-Pierre, 13385 Marseille Cedex 05, France; e-mail: Jean-Francois.Pellissier{at}medecine.univ-mrs.fr
The authors analyzed muscle biopsy specimens of 104 patients with creatine kinase activity greater than 500 UI/L (normal 10 to 170 UI/L) without signs of muscle weakness. They achieved a definite or probable diagnosis in 55% of cases. The most frequently identified diseases were glycogen storage diseases, muscular dystrophies, and inflammatory myopathies. The probability of making a diagnosis was higher in children and when creatine kinase level was greater than 2,000 UI/L.
Disclosure: The authors report no conflicts of interest.
Received September 22, 2005. Accepted in final form February 8, 2006.
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