Published in
Thieme Gruppe, Neuropediatrics, 2(32), p. 107-109, 2001
DOI: 10.1055/s-2001-13877
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Myopathy in a patient with chromosome 22q11 deletion.
Journal article published in 2001 by
T. Mongini,
C. Doriguzzi,
C. Arduino,
A. Brusco 
,
S. Bortolotto,
R. Mutani,
L. Palmucci
,
S. Bortolotto,
R. Mutani,
L. Palmucci
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Abstract
In conclusion, the presented case had a subclinical myopathy, fairly marginal in comparison with the clinical features typical of the chromosome 22q11 phenotype and which would have been overlooked if serum CK had not been determined. We suggest that muscle involvement may be present in some cases of this syndrome and that it should be considered in the clinical spectrum of this condition