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The letter discusses a case of a 10-year-old girl with proximal muscle weakness and hypokalemic periodic paralysis, suggesting a diagnosis of congenital adrenal hyperplasia (CAH) and limb-girdle muscular dystrophy (LGMD)-17. Genetic testing revealed mutations in both the CYP11B1 and PLEC genes, indicating the coexistence of these conditions. The authors highlight the importance of recognizing underlying genetic disorders in patients presenting with muscle weakness and hypokalemia.
- Author
- chetan
- Language
- EN