Abstract
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.
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Abbreviations
- AS :
-
Angelman syndrome
- BMD :
-
Becker muscular dystrophy
- CK :
-
creatine kinase
- DMD :
-
Duchenne muscular dystrophy
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Colomer, J., Gallano, P., Tizzano, E. et al. Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene. Eur J Pediatr 153, 492–494 (1994). https://doi.org/10.1007/BF01957003
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DOI: https://doi.org/10.1007/BF01957003