Article
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
Human mutation - 1 Mar 2007
Stanczak Christopher M, Chen Zugen, Zhang Yao-Hua, Nelson Stanley F, McCabe Edward R B
Abstract excerpt
Infantile or complex glycerol kinase deficiency (cGKD) is a contiguous gene deletion syndrome caused by a loss of GK (MIM# 300474), along with its neighboring genes, Duchenne muscular dystrophy (DMD; MIM# 300377) and/or Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1; MIM# 300473). Patients with cGKD present with glyceroluria and hyperglycerolemia in association with DMD and/or adrenal hypoplasia congenita...
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