our study reveals a defect in VPS11 as the underlying etiology for an autosomal recessive leukoencephalopathy disorder associated with a dysfunctional autophagy-lysosome trafficking pathway
In Ashkenazi-Jewish patients syndrome with hypomyelination developmental delay increasing appendicular spasticity truncal hypotonia and acquired microcephaly is associated with VPS11 missense mutation p.Cys846Gly.
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