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Novel Mutation in the CPT II Gene in a Child With Periodic Febrile Myalgia and Myoglobinuria

Servizio Malattie Neuromuscolari, Department of Pediatrics University of Genova, Istituto Giannina Gaslini, Genova, Italy

Massimo Bado, MD

Servizio Malattie Neuromuscolari, Department of Pediatrics University of Genova, Istituto Giannina Gaslini, Genova, Italy

Carlo Minetti, MD

Servizio Malattie Neuromuscolari, Department of Pediatrics University of Genova, Istituto Giannina Gaslini, Genova, Italy

Giuseppe Cordone, MD

Servizio Malattie Neuromuscolari, Department of Pediatrics University of Genova, Istituto Giannina Gaslini, Genova, Italy

Salvatore DiMauro, MD

Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders College of Physicians and Surgeons, Columbia University, New York, NY, sdl2{at}columbia.edu

We have identified a novel missense mutation in the carnitine palmitoyltransferase II (CPT II) gene in a child with CPT II deficiency characterized clinically by episodes of myalgia and myoglobinuria induced by intercurrent febrile illnesses. The patient was heterozygous for a G-to-A substitution at codon 487, changing an encoded glutamic acid to a lysine (E489K), while the other allele carried the common S113L mutation. This case enlarges the spectrum of mutations in patients with CPT II deficiency, and confirms the association of the S113L mutation with the muscular form. (J Child Neurol 2000;15:390-393).

Journal of Child Neurology, Vol. 15, No. 6, 390-393 (2000)
DOI: 10.1177/088307380001500607


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