Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene
| Autor: | E. F. Tizzano, Jaume Colomer, M. Baiget, P. Gallano, L. V. B. Nicholson |
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| Rok vydání: | 1994 |
| Předmět: |
Male
medicine.medical_specialty Elevated level Mentally retarded Polymerase Chain Reaction Dystrophin Intellectual Disability Internal medicine Angelman syndrome medicine Humans Sequence Deletion Muscle biopsy medicine.diagnostic_test biology business.industry Dystrophy Karyotype DNA medicine.disease Dystrophin gene Endocrinology Child Preschool Pediatrics Perinatology and Child Health biology.protein business |
| Zdroj: | European Journal of Pediatrics. 153:492-494 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/bf01957003 |
| Popis: | We report here a mentally retarded 32-month-old boy whose initial diagnosis was Angelman syndrome based on his clinical features. Cytogenetic studies showed a normal karyotype. Due to an elevated level of serum creatine kinase activity, we performed analyses to rule out a myopathic process. Although the electromyogram was normal, a few scattered necrotic fibres were seen in the muscle biopsy. DNA and dystrophin studies revealed an in-frame deletion in the 5' region of the dystrophin gene and an abnormal form of the protein product, consistent with a diagnosis of dystrophinopathy. We cannot totally rule out the possibility that this boy has the two separate conditions. |
| Databáze: | OpenAIRE |
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