Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia
β 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
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
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