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Article

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.

Journal of neurology - 1 May 2012

Chamova Teodora, Florez Laura, Guergueltcheva Velina, Raycheva Margarita, Kaneva Radka, Lochmüller Hanns, Kalaydjieva Luba, Tournev Ivailo

Abstract excerpt

A recent report (Vermeer et al. in Am J Hum Genet 87:813-819, 2010) implicated for the first time the ANO10 gene in the genetic basis of autosomal recessive cerebellar ataxias. One of the three described families were Roma/Gypsies from Serbia, where the affected individuals were homozygous for the truncating p.Leu384fs mutation and displayed distinct phenotypic features (Vermeer et al. in Am J Hum Genet...

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Source

Identifiers

PMID: 22008874
DOI: 10.1007/s00415-011-6276-6

Genes

ANO10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.PMID 22008874Read ↗

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