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Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome

โœ Scribed by F. Saito; J. Goto; H. Kakinuma; F. Nakamura; S. Murayama; I. Nakano; A. Tonomura

Book ID
115089452
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
125 KB
Volume
29
Category
Article
ISSN
0009-9163

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Deletion mapping in Xp21 for patients wi
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays
โœ Christopher M. Stanczak; Zugen Chen; Yao-Hua Zhang; Stanley F. Nelson; Edward R. ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 312 KB

## Communicated by Nancy Spinner 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

Characterisation of a Xp21 microdeletion
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita
โœ M. Stuhrmann; H. Heilbronner; A. Reis; R. -D. Wegner; P. Fischer; J. Schmidtke ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 249 KB

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