Ontology highlight
ABSTRACT:
SUBMITTER: Xie H
PROVIDER: S-EPMC3293920 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
PloS one 20120305 3
Megalencephalic leukoencephalopathy with subcortical cysts (MLC, MIM# 604004) is an autosomal recessive inherited disease mostly resulting from MLC1 mutations. In this study, we finished the functional analysis of MLC1 mutations identified recently in Chinese patients, including five newly described missense mutations (R22Q, A32V, G73E, A275T, Y278H), one known nonsense mutation (Y198X), and two known missense mutations (S69L, T118M). We found MLC1(wt) was localized to the cell periphery, wherea ...[more]