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Article

The neurogenetics of mucolipidosis type IV.

Neurology - 13 Aug 2002

Altarescu G, Sun M, Moore D F, Smith J A, Wiggs E A, Solomon B I, Patronas N J, Frei K P, Gupta S, Kaneski C R, Quarrell O W, Slaugenhaupt S A, Goldin E, Schiffmann R

Abstract excerpt

BACKGROUND: Mucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that codes for mucolipin, a member of the transient receptor potential (TRP) gene family. OBJECTIVE: To comprehensively characterize the clinical and genetic abnormalities of MLIV. METHODS: Twenty-eight patients with MLIV, aged 2 to 25 years, were studied. Ten returned for follow-up every 1 to 2 years...

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Source

Identifiers

PMID: 12182165
DOI: 10.1212/wnl.59.3.306

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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