Myopathy in a patient with chromosome 22q11 deletion.

Mongini, T

Myopathy in a patient with chromosome 22q11 deletion. [electronic resource] - Neuropediatrics Apr 2001 - 107-9 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

0174-304X

10.1055/s-2001-13877 doi


Abnormalities, Multiple--diagnosis
Adolescent
Biopsy
Chromosome Deletion
Chromosomes, Human, Pair 22
Craniofacial Abnormalities--diagnosis
Creatine Kinase--blood
Glycogen--metabolism
Humans
Male
Microscopy, Electron
Muscle, Skeletal--pathology
Muscular Atrophy--diagnosis
Neuromuscular Diseases--diagnosis