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Article

Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.

Brain & development - 1 Oct 2009

Tüysüz Beyhan, Goldin Ehud, Metin Bariş, Korkmaz Bariş, Yalçinkaya Cengiz

Abstract excerpt

Mucolipidosis type IV is a rare neurodegenerative lysosomal storage disorder that usually presents during the first year of life with severe mental retardation, delayed motor milestones and corneal opacities. Mucolipidosis IV is caused by mutations in MCOLN1, a gene encoding mucolipin-1 which is responsible for maintaining lysosomal function. The majority of known patients with this disorders are Ashkenazi Jews,...

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Source

Identifiers

PMID: 19006653
DOI: 10.1016/j.braindev.2008.10.001

Genes

MCOLN1

Variants

Provenance

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