405 Duchenne muscular dystrophy with mental retardation and a peculiar phenotype associated with glycerol kinase deficiency
β Scribed by R. Schmid; A. Bottani; F. Picard; C.A. Haenggeli
- Book ID
- 114361197
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 131 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1090-3798
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Genomic DNA from five previously unreported patients with glycerol kinase deficiency (GKD), dystrophic myopathy, and adrenal insufficiency were studied with genomic probes and cDNA probes for the Duchenne muscular dystrophy (DMD) locus. These individuals, together with those reported by ourselves an
IL1RAPL1 (interleukin-1 receptor accessory protein-like, gene 1) has recently been shown to be mutated in patients with X-linked mental retardation. Clinical experience has suggested that patients with the contiguous gene syndrome, complex glycerol kinase deficiency (cGKD), will have mental retardat