Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays
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چکیده
منابع مشابه
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
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 h...
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BACKGROUND Glycerol kinase deficiency (GKD) is an X-linked recessive disorder that presents in both isolated and complex forms. The contiguous deletion that leads to GKD also commonly affects NR0B1 (DAX1), the gene associated with adrenal hypoplasia congenita, and DMD, the Duchenne muscular dystrophy gene. Molecular testing to delineate this deletion is expensive and has only limited availabili...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2007
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.20424