[Muscle phosphorylase deficiency in childhood. A case report].
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.
Bruno
C
C
Servizio Autonomo per la Diagnosi, Istituto Giannina Gaslini, Genova.
Iester
A
A
Bado
M
M
Morreale
G
G
Broda
P
P
Minetti
C
C
Cordone
A
A
Cordone
G
G
D002648:Child; D002675:Child, Preschool; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology
Il deficit di fosforilasi muscolare nell' età pediatrica. Contributo clinico.