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Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia

✍ Scribed by J. Chelly; F. Marlhens; B. Dutrillaux; G. J. Ommen; M. Lambert; B. Haioun; G. Boissinot; M. Fardeau; J. -C. Kaplan


Publisher
Springer
Year
1988
Tongue
English
Weight
962 KB
Volume
78
Category
Article
ISSN
0340-6717

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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