Core-rod myopathy (CRM) is a rare congenital myopathy, initially related to mutations in the RYR1 gene and subsequently mutations in the NEB gene were described. We present a 3-year-old boy, followed-up for 12 years, who consulted because of motor developmental delay and muscle weakness since birth. Normal CPK, EMG suggested anterior horn disease. He showed: longilineous aspect, high palate, pectum excavatum, mild generalized weakness, bilateral valgus feet, hyporeflexia, generalized hyperlaxity, waddling gait.

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