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Article

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

BMC medical genetics - 19 Aug 2015

van Minkelen Rick, Guitart Miriam, Escofet Conxita, Yoon Grace, Elfferich Peter, Bolman Galhana M, van der Helm Robert, van de Graaf Raoul, van den Ouweland Ans M W

Abstract excerpt

BACKGROUND: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. Ataxia with oculomotor apraxia type 1 is caused by bi-allelic mutations in APTX (chromosome 9p21.1). CASE PRESENTATION: Our patient has a...

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Source

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Identifiers

PMID: 26285866
DOI: 10.1186/s12881-015-0213-y
PMCID: PMC4593195

Genes

APTX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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