[Congenital myopathy with cores and nemaline rods in one family]

We present a mother and 2 children with congenital myopathy whose clinical signs were facial paresis in all three, and mild involvement of the lower extremities in the mother and one son. All three presented skeletal abnormalities, hypertelorism, arched palate, retraction of the Achilles tendon or short neck. Symptoms were not progressive and muscle biopsies showed central cores and nemaline rods in the mother and only nemaline rods in the 2 sons. The mother also suffered carpal tunnel syndrome, as had other members of the family as the result of autosomal dominant inheritance.