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[Glycogenesis due to adult phosphorylase kinase deficiency]
P Couratier1, L Magy, C Baussan
1Service de Neurologie, CHU Limoges. couratie@unilim.fr
Revue Neurologique
|August 12, 2003
Abstract:
A 42-year-old man presented exercise-induced muscle pain without myogloburia since the age of 12 years. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and inter-myofibrillar accumulation of glycogen. Exercise on a bicycle ergometer produced a normal raise of lactate. Biochemical study showed a partial defect in phosphorylase activity.