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Pivot Concepts:
Gene/Protein
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Target Concepts:
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Query: UMLS:C0026838 (
spasticity
)
6,471
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with
Duchenne muscular dystrophy
, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia,
spasticity
, psychomotor retardation, and growth delay. His mother also has this deletion in an X chromosome. From our findings, we propose that the human glycerol kinase locus and the human X-linked adrenal hypoplasia locus are in the Xp21 band.
...
PMID:Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. 300 18
