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Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia

✍ Scribed by F. Marlhens; J. Chelly; J. C. Kaplan; D. Lefrancois; J. P. Harpey; B. Dutrillaux


Book ID
104707355
Publisher
Springer
Year
1987
Tongue
English
Weight
819 KB
Volume
77
Category
Article
ISSN
0340-6717

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We have studied patients with Duchenne muscular dystrophy (DMD), DMD together with glycerol kinase (GK) deficiency, or DMD together with both GK deficiency and congenital adrenal hypoplasia (AHC). Analysis of deletions in these patients allows the mapping of these mutations in Xp21. The following or

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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