Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy

Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy

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...

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Bibliographic Details
Main Authors: Hyewon Woo, Seungbok Lee, Ji Yeon Han, Woo Joong Kim, Man Jin Kim, Moon-Woo Seong, Soo Yeon Kim, Anna Cho, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae
Format: Article
Language:English
Published: Korean Child Neurology Society 2022-07-01
Series:Annals of Child Neurology
Subjects:
myopathies, structural, congenital
myotubularin
Online Access:http://www.annchildneurol.org/upload/pdf/acn-2022-00171.pdf

Internet

http://www.annchildneurol.org/upload/pdf/acn-2022-00171.pdf

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