Article
A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Jan 2025
Ghasemi Aida, Eslami Ardakani Mahdieh, Togha Mansoureh, Yazdi Narges, Lang Anthony E, Amini Elahe, Rohani Mohammad, Alavi Afagh
Abstract excerpt
BACKGROUND: Mucolipidosis type IV (MLIV) is a rare, progressive lysosomal storage disorder characterized by severe intellectual disability, delayed motor milestones and ophthalmologic abnormalities. MLIV is an autosomal recessive disease caused by mutations in the MCOLN1 gene, encoding mucolipin-1 which is responsible for maintaining lysosomal function. OBJECTIVES AND METHODS: Here, we report a family of four...
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