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Article

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.

BMC neurology - 7 Jan 2014

Morino Hiroyuki, Miyamoto Ryosuke, Ohnishi Shizuo, Maruyama Hirofumi, Kawakami Hideshi

Abstract excerpt

BACKGROUND: Spinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed with recessive SCA. METHOD: The patient is a 37-year-old Japanese woman with consanguineous parents. The head...

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Identifiers

PMID: 24397319
DOI: 10.1186/1471-2377-14-5
PMCID: PMC3890717

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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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