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Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs

✍ Scribed by W. O. Renier; F. A. E. Nabben; T. W. J. Hustinx; J. H. Veerkamp; B. J. Otten; H. J. Ter Laak; B. G. A. Ter Haar; F. J. M. Gabreëls


Book ID
119839409
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
565 KB
Volume
24
Category
Article
ISSN
0009-9163

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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