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Article

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.

BMC medical genetics - 14 Sept 2012

Ali Bassam R, Silhavy Jennifer L, Gleeson Matthew J, Gleeson Joseph G, Al-Gazali Lihadh

Abstract excerpt

BACKGROUND: Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. The condition has been classified into cerebellar ataxia, mental retardation and disequilibrium syndrome types 1 (CAMRQ1), 2 (CAMRQ2) and 3 (CAMRQ3) and attributed to mutations in VLDLR, CA8 and WDR81 genes, respectively. Quadrupedal locomotion...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22973972
DOI: 10.1186/1471-2350-13-80
PMCID: PMC3495048

Genes

VLDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.PMID 22973972Read ↗

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