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Article

Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

Journal of neurogenetics - 1 Dec 2013

Schwabova Jaroslava, Brozkova Dana Safka, Petrak Borivoj, Mojzisova Mahulena, Pavlickova Klara, Haberlova Jana, Mrazkova Lenka, Hedvicakova Petra, Hornofova Ludmila, Kaluzova Marie, Fencl Filip, Krutova Marcela, Zamecnik Josef, Seeman Pavel

Abstract excerpt

Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency, causing death frequently before the age of 1 year. Recently, causative mutations in EXOSC3 were reported in a majority of PCH1 patients, but the detailed clinical...

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Source

Identifiers

PMID: 23883322
DOI: 10.3109/01677063.2013.814651

Genes

EXOSC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.PMID 23883322Read ↗

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