Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs
| Autor: | H.J. ter Laak, Willy O. Renier, Fons J. M. Gabreëls, T. W. J. Hustinx, F. A. E. Nabben, J.H. Veerkamp, B. J. Otten, B. G. A. ter Haar |
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| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Glycerol kinase X Chromosome Genetic Linkage Disease Muscular Dystrophies Glycerol Kinase Intellectual Disability Internal medicine Genetics medicine Humans Muscular dystrophy Growth Disorders Genetics (clinical) X-linked recessive inheritance Adrenal Hyperplasia Congenital biology business.industry Phosphotransferases Infant Newborn Glycerol kinase deficiency medicine.disease Hypoplasia Pedigree Endocrinology Gonadotrophin deficiency Congenital adrenal hypoplasia biology.protein Female business |
| Zdroj: | Clinical Genetics. 24:243-251 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | 2Department of Pediatrics, Groot Ziekengasthuis, 's Hertogenbosch, The Netherlands A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities of gonadotrophin and glycerol kinase. The clinical, biochemical and genetic findings in this exceptional family are reported and discussed. |
| Databáze: | OpenAIRE |
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