Il deficit di fosforilasi muscolare nell' età pediatrica. Contributo clinico.

Translated title of the contribution: Muscle phosphorylase deficiency in childhood. A case report

C. Bruno, A. Iester, M. Bado, G. Morreale, P. Broda, C. Minetti, A. Cordone, G. Cordone

Research output: Contribution to journalArticle

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.

Original languageItalian
Pages (from-to)459-462
Number of pages4
JournalMinerva Pediatrica
Volume46
Issue number10
Publication statusPublished - Oct 1994

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Glycogen Storage Disease Type V
Muscle Form Glycogen Phosphorylase
Myoglobinuria
Deficiency Diseases
Muscle Cramp
Fatigue
Siblings
Exercise
Biopsy
Muscles

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Bruno, C., Iester, A., Bado, M., Morreale, G., Broda, P., Minetti, C., ... Cordone, G. (1994). Il deficit di fosforilasi muscolare nell' età pediatrica. Contributo clinico. Minerva Pediatrica, 46(10), 459-462.

Il deficit di fosforilasi muscolare nell' età pediatrica. Contributo clinico. / Bruno, C.; Iester, A.; Bado, M.; Morreale, G.; Broda, P.; Minetti, C.; Cordone, A.; Cordone, G.

In: Minerva Pediatrica, Vol. 46, No. 10, 10.1994, p. 459-462.

Research output: Contribution to journalArticle

Bruno, C, Iester, A, Bado, M, Morreale, G, Broda, P, Minetti, C, Cordone, A & Cordone, G 1994, 'Il deficit di fosforilasi muscolare nell' età pediatrica. Contributo clinico.', Minerva Pediatrica, vol. 46, no. 10, pp. 459-462.
Bruno, C. ; Iester, A. ; Bado, M. ; Morreale, G. ; Broda, P. ; Minetti, C. ; Cordone, A. ; Cordone, G. / Il deficit di fosforilasi muscolare nell' età pediatrica. Contributo clinico. In: Minerva Pediatrica. 1994 ; Vol. 46, No. 10. pp. 459-462.
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