[Phosphorus NMR spectroscopy. Its value in the diagnosis of metabolic myopathies. A case of Mac Ardle's disease].
Phosphorus nuclear magnetic resonance spectroscopy is a non-invasive method used to study muscle bioenergetics in vivo. A new case of Mc Ardle's disease (myophosphorylase deficiency) is reported here. In a context of metabolic myopathy this method can provide a diagnosis of glycogenosis. The spectra obtained at exercise and during recovery determine the degree of enzyme deficiency with satisfactory precision.
Kaminsky
P
P
Service de médecine J., Tour Drouet, Centre hospitalier régional universitaire de Nancy, hôpitaux de Brabois, Vandoeuvre.
Melone
M
M
Brunotte
F
F
Escanye
J M
JM
Robin
B
B
Floquet
J
J
Duc
M L
ML
Robert
J
J
Duc
M
M
D000328:Adult; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D007526:Isoelectric Point; D009682:Magnetic Resonance Spectroscopy; D009135:Muscular Diseases / Q000378:metabolism*; D010758:Phosphorus; D012016:Reference Values
D010758:Phosphorus
Spectroscopie en RMN du phosphore. Son intérêt dans le diagnostic des myopathies métaboliques. Une observation de maladie de Mac Ardle.