Oculocraniosomatic neuromuscular disease with "ragged-red fibers" 1예 보고

Abstract

This is a case report of oculocraniosomatic neuromuscular disease with "ragged-red fibers". The patients is 36 years old female who is revealing slowly progressive ptosis, external ophthalmoplegia, general weakness and mild right hemi paresis and hemi anesthesia. The EMG findings are suggestive of diffuse myopathic process and the frozen muscle specimen from the left deltoid muscle shows the characteristic "ragged-red fibers" with classical myopathic changes.