Electrophysiological and pathological studies of peripheral nerves in children with merosin-deficient congenital muscular dystrophy type 1A

Here we report electrophysiological and pathological findings from peripheral nerves in three children (a boy and two girls, range 9–17 months) with clinically diagnosed, muscle biopsy-proven, merosin-deficient, congenital muscular dystrophy type 1A (MDC1A). We conducted pre-biopsy nerve conduction studies of the peripheral nerves in motor(median(M), ulner(U), tibial(T)) and sensory nerves(M, U, sural(S)). Pathological findings of the peripheral nerves were evaluated by the g-ratio (the axon diameter divided by the myelinated fiber diameter) in some fibers of muscle biopsy samples.