Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
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DOI: 10.1038/s10038-021-00921-1
Abstract: Monoallelic mutations on TMEM63A have been recently reported as cause of a previously unrecognized disorder named "infantile-onset transient hypomyelination". Clinical and neuroradiological presentation is described as highly similar to Pelizaeus-Merzbacher Disease but evolution over time… read more here.
Keywords: onset transient; infantile onset; cord involvement; transient hypomyelination ... See more keywords