Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy

• Main Authors: Hyewon Woo (Author), Seungbok Lee (Author), Ji Yeon Han (Author), Woo Joong Kim (Author), Man Jin Kim (Author), Moon-Woo Seong (Author), Soo Yeon Kim (Author), Anna Cho (Author), Byung Chan Lim (Author), Ki Joong Kim (Author), Jong-Hee Chae (Author)
• Format: Book
• Published: Korean Child Neurology Society, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Purpose X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired hypoxic damage. We aim to evaluate the clinical...