[Muscle-eye-brain disease. Presentation of one case with genetic study].

INTRODUCTION The objective [corrected] is to present a case of muscle-eye-brain (MEB) disease with genetic study. MATERIAL AND METHODS We studied an affected male from the age of 7 months to 21 years. During this time, clinical, analytical, neurophysiological (EEG, EMG, visual evoked potential [VEP], electroretinogram [ERG]), image (CT, MR), cerebral… (More)