Electrophysiological findings in X-linked myopathy with excessive autophagy

We report electrophysiological features and magnetic resonance imaging muscle findings in 4 patients and I female carrier of X-linked myopathy with excessive autophagy. Motor units were polyphasic with high mean amplitude and normal duration. The thigh muscles were most severely involved, but myotonic discharges were abundant in both clinically affected and unaffected muscles. Along with the clinicopathological features, these electrophysiological findings distinguish X-linked myopathy with excessive autophagy from other limb-girdle myopathies.