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Article

The molecular basis of mucolipidosis type IV.

Current molecular medicine - 1 Aug 2002

Slaugenhaupt Susan A

Abstract excerpt

Mucolipidosis Type IV (MLIV) is a lysosomal storage disorder that is characterized by severe neurologic and ophthalmologic abnormalities. It is a progressive disease that usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones. First described in 1974, MLIV is a rare autosomal recessive disease and the majority of patients diagnosed to date are of...

Read the complete abstract on PubMed

Topics

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Share to Chromosomes, Human, Pair 19
Share to Cloning, Molecular
Share to Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mucolipidoses

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Share to Transient Receptor Potential Channels

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Source

Identifiers

PMID: 12125810
DOI: 10.2174/1566524023362276

Genes

MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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