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Muscle weakness as presenting symptom of osteogenesis imperfecta

European Journal of Pediatrics, ISSN: 0340-6199, Vol: 165, Issue: 6, Page: 392-394
2006
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Article Description

A young boy presented with severe muscle weakness of his legs at the age of 2 years. Muscle morphology and computer tomography imaging findings were compatible with a metabolic myopathy. Additional investigation showed an osteopenic skeleton and signs of healing fractures. A skin biopsy showed an abnormal electrophoresis pattern of collagen, consistent with a variant of osteogenesis imperfecta. The patient improved with intravenous treatment with pamidronate. © Springer-Verlag 2006.

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