Dementia in a Child with Myotubular Myopathy

Heather J. McCrea, Christine Kretz, Jocelyn Laporte, Laura R. Ment

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)483-485
Number of pages3
JournalPediatric Neurology
Issue number6
StatePublished - Jun 2009
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology


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