The first genetically confirmed Japanese patient with mucolipidosis type IV.
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ABSTRACT: Mucolipidosis type IV (MLIV) is a rare neurodegenerative disorder characterized by severe psychomotor delay and visual impairment. We report the brain pathology in the first Japanese patient of MLIV with a novel homozygous missense mutation in MCOLN1. We detected the localized increase in p62-reactive astrocytes in the basal ganglia.
SUBMITTER: Saijo H
PROVIDER: S-EPMC4856247 | biostudies-other | 2016 May
REPOSITORIES: biostudies-other
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