Clinical, Radiological, and Genetic Survey of Patients With Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1

Volume: 50, Issue: 5, Pages: 491 - 497
Published: May 1, 2014
Abstract
Background To evaluate clinical, genetic, and radiologic features of our patients with muscle-eye-brain disease. Methods The data of patients who were diagnosed with muscle-eye-brain disease from a cohort of patients with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylül University School of Medicine and Gaziantep Children's Hospital between 2005 and 2013 were analyzed retrospectively. Results From a cohort of...
Paper Details
Title
Clinical, Radiological, and Genetic Survey of Patients With Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1
Published Date
May 1, 2014
Volume
50
Issue
5
Pages
491 - 497
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