title: Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria.
abstract: Two young boys were referred for evaluation of metabolic myopathy because of elevated serum levels of creatine kinase, cramps and pigmenturia. Immunohistochemical studies of dystrophin in muscle biopsies showed reduced intensity of the stain with a patchy and discontinuous pattern in most fibers. In both patients dystrophin was undetectable by immunoblotting. DNA analysis of the dystrophin gene was not informative in one patient; in the other it revealed an in-frame deletion comprising exons 3-6. These observations suggest that the two patients are affected with an unusual phenotype of Becker muscular dystrophy. Dystrophin analysis should be included in the evaluation of patients with childhood-onset of recurrent myoglobinuria.
authors.affiliation: Department of Neurology, College of Physicians and Surgeons of Columbia University, New York, NY 10032.
authors.forename: C
authors.initials: C
authors.lastname: Minetti
authors.forename: K
authors.initials: K
authors.lastname: Tanji
authors.forename: H W
authors.initials: HW
authors.lastname: Chang
authors.forename: R
authors.initials: R
authors.lastname: Medori
authors.forename: G
authors.initials: G
authors.lastname: Cordone
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
mesh_terms: D002648:Child; D016189:Dystrophin / Q000032:analysis / Q000172:deficiency*; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D008297:Male; D009120:Muscle Cramp / Q000209:etiology*; D009132:Muscles / Q000737:chemistry; D009136:Muscular Dystrophies / Q000175:diagnosis; D009212:Myoglobinuria / Q000150:complications*; D005082:Physical Exertion
chemical_list: D016189:Dystrophin