Dementia in a child with myotubular myopathy. - Inserm - Institut national de la santé et de la recherche médicale Access content directly
Journal Articles Pediatric Neurology Year : 2009

Dementia in a child with myotubular myopathy.


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.

Dates and versions

inserm-00420176 , version 1 (28-09-2009)



Heather J. Mccrea, Christine Kretz, Jocelyn Laporte, Laura R. Ment. Dementia in a child with myotubular myopathy.. Pediatric Neurology, 2009, 40 (6), pp.483-5. ⟨10.1016/j.pediatrneurol.2009.01.005⟩. ⟨inserm-00420176⟩
54 View
0 Download



Gmail Facebook X LinkedIn More