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.

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