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Glycerol kinase deficiency and adrenal hypoplasia congenita

โœ Scribed by R. A. Clarke; N. Howard; W. J. O'Sullivan; L. G. Svirklys; A. G. Mackinlay

Book ID
110222799
Publisher
Springer
Year
1997
Tongue
English
Weight
5 KB
Volume
20
Category
Article
ISSN
0141-8955

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We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time with symptoms of hypotone dehydration because of AHC. At present, he shows severe muscular

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Complex glycerol kinase deficiency is a contiguous gene syndrome that involves deletion of the glycerol kinase (GK) gene along with the loci for Duchenne muscular dystrophy (DMD) and/or adrenal hypoplasia congenita (AHC). The deletion breakpoints in these patients allowed identification of the criti