The first genetically confirmed Japanese patient with mucolipidosis type IV
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‐reacti...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Online |
| Language: | English |
| Published: |
John Wiley and Sons Inc.
2016
|
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856247/ |