EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report

• Glavni autori: Ilaria Filareto (Autor), Giulia Cinelli (Autor), Ilaria Scalabrini (Autor), Elisa Caramaschi (Autor), Patrizia Bergonzini (Autor), Elisabetta Spezia (Autor), Alessandra Todeschini (Autor), Lorenzo Iughetti (Autor)
• Format: Knjiga
• Izdano: BMC, 2022-07-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Abstract Background Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive neurological disease. The physiopathology of disease is still little understood, but it seems to involve impairment in maturation of astrocytes; as a consequence white matter is more prone to cellular...