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 journalArticlepeer-review

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.

Translated title of the contributionMuscle phosphorylase deficiency in childhood. A case report
Original languageItalian
Pages (from-to)459-462
Number of pages4
JournalMinerva Pediatrica
Volume46
Issue number10
Publication statusPublished - Oct 1994

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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