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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856247 | PMC |
| http://dx.doi.org/10.1002/ccr3.540 | DOI Listing |
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