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A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci

✍ Scribed by Norma Beatriz Romero; Dominique Récan; Odile Rigal; France Leturcq; Stéphane Llense; Jean-Claude Barbot; Nathalie Deburgrave; Marie Armelle Cheval; Françoise Deniau; Jean-Claude Kaplan

Book ID
117670652
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
308 KB
Volume
7
Category
Article
ISSN
0960-8966

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📜 SIMILAR VOLUMES

Complex glycerol kinase deficiency: A co
Complex glycerol kinase deficiency: A contiguous gene syndrome involving the Duchenne muscular dystrophy, glycerol kinase, and adrenal hypoplasia congenita loci
✍ McCabe, Edward R. B. ;Guo, Weiwen ;Burris, Thomas P. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 795 KB

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