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Article

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.

Neurology - 2 Dec 2014

Burns Randi, Majczenko Karen, Xu Jishu, Peng Weiping, Yapici Zuhal, Dowling James J, Li Jun Z, Burmeister Margit

Abstract excerpt

OBJECTIVE: To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology. METHODS: Whole-exome sequencing was combined with homozygosity mapping, linkage, and expression analysis to identify candidate genes, confirmed by Sanger sequencing. Reverse transcription-PCR and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25361784
DOI: 10.1212/WNL.0000000000001053
PMCID: PMC4276403

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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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