[Glycogenesis due to adult phosphorylase kinase deficiency].
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.
Couratier
P
P
Service de Neurologie, CHU Limoges. couratie@unilim.fr
Magy
L
L
Baussan
C
C
Antonini
M-T
MT
Martaille
J-F
JF
Tabaraud
F
F
Vallat
J-M
JM
D000328:Adult; D001706:Biopsy; D006003:Glycogen / Q000378:metabolism*; D006801:Humans; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism*; D010764:Phosphorylase Kinase / Q000172:deficiency*
D006003:Glycogen; D010764:Phosphorylase Kinase