GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

Oculodentodigital dysplasia is an autosomal dominant disorder due to GJA1 variants characterized by dysmorphic features. Neurologic symptoms have been described in some patients but without a clear neuroimaging pattern. To understand the pathophysiology underlying neurologic deficits in oculodentodi...

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Bibliografski detalji
Izdano u:AJNR Am J Neuroradiol
Glavni autori: Saint-Val, L., Courtin, T., Charles, P., Verny, C., Catala, M., Schiffmann, R., Boespflug-Tanguy, O., Mochel, F.
Format: Artigo
Jezik:Inglês
Izdano: American Society of Neuroradiology 2019
Teme:
Adult Brain
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7053899/
https://ncbi.nlm.nih.gov/pubmed/31023660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3174/ajnr.A6036
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