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Article

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.

Journal of human genetics - 1 Oct 2021

Tonduti Davide, Mura Eleonora, Masnada Silvia, Bertini Enrico, Aiello Chiara, Zini Daniela, Parmeggiani Lucio, Cantalupo Gaetano, Talenti Giacomo, Veggiotti Pierangelo, Spaccini Luigina, Iascone Maria, Parazzini Cecilia

Abstract excerpt

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 was surprisingly benign with a progressive spontaneous improving course. We report on a new TMEM63A-mutated girl. The clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33785861
DOI: 10.1038/s10038-021-00921-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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