Myopathy in a patient with chromosome 22q11 deletion.
Mongini
T
T
Doriguzzi
C
C
Arduino
C
C
Brusco
A
A
Bortolotto
S
S
Mutani
R
R
Palmucci
L
L
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D001706:Biopsy; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics*
D006003:Glycogen; D003402:Creatine Kinase