CONGENITAL MYOPATHIES: GENERAL AND RYR1

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We received the thigh muscle biopsy of a 55 month old boy diagnosed with congenital hyporegenerative microcytic anemia of unknown origin to investigate for a possible mitochondrial cytopathy. He is the second child from a non-consanguineous couple born in the 32+2 week of pregnancy via cesarean section due to pathological CTG after receiving 7 erythrocyte transfusions in utero. His brother is healthy as are his parents. Hypertelorism, low-set ears and cryptorchidism were described at birth as were muscular hypotonia, truncal ataxia and global developmental delay in the following months.

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