title: [Muscle phosphorylase deficiency in childhood. A case report].
abstract: Myophosphorylase deficiency or McArdle's disease is rarely recognized in childhood. The onset is generally in adolescence or in adult age with exercise intolerance, muscle cramps and myoglobinuria. Two siblings of 6 and 2 years of age are described. The first patient showed early fatigue and both had elevated CK levels. Morphological and biochemical studies of muscle biopsies revealed a defect of myophosphorylase.
authors: Servizio Autonomo per la Diagnosi, Istituto Giannina Gaslini, Genova.
authors: C
authors: C
authors: Bruno
authors: A
authors: A
authors: Iester
authors: M
authors: M
authors: Bado
authors: G
authors: G
authors: Morreale
authors: P
authors: P
authors: Broda
authors: C
authors: C
authors: Minetti
authors: A
authors: A
authors: Cordone
authors: G
authors: G
authors: Cordone
mesh_terms: D002648:Child; D002675:Child, Preschool; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology
vernacular_title: Il deficit di fosforilasi muscolare nell' età pediatrica. Contributo clinico.