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Xiong H et al. – The patient presented with neonatal hypotonia, seizures, and delayed motor and speech development. Additional testing revealed cerebral and cerebellar gyrus abnormalities with white matter signal intensity changes, elevated serum creatine kinase (CK) levels, and dystrophic skeletal muscle with alpha–dystroglycan hypoglycosylation, and normal beta–dystroglycan and merosin expression.


   

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