Journal
PEDIATRIC NEUROLOGY
Volume 40, Issue 6, Pages 483-485Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2009.01.005
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Funding
- National Institutes of Health [MSTP TG 5T32GM07205, NS36251]
- INSERM
- CNRS
- College de France
- Association Francaise contre les Myopathies
- Fondation pour la Recherche Medicale
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An 8-year old boy with genetically confirmed X-linked myotubular myopathy developed progressively worsening dementia and subclinical seizures at age 5-6 years. Previously, seizures or dementia have been noted in only a small number of myotubular myopathy patients, and only in association with significant metabolic disturbances. This patient had no evidence of hypoxemia or other metabolic disturbance. The present case suggests that the clinical spectrum of X-linked myotubular myopathy is broader than previously considered and may include mutation-dependent central nervous system disease. (C) 2009 by Elsevier Inc. All rights reserved.
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