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Article

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.

Journal of neurology - 1 Jul 2013

Biancheri Roberta, Cassandrini Denise, Pinto Francesca, Trovato Rosanna, Di Rocco Maja, Mirabelli-Badenier Marisol, Pedemonte Marina, Panicucci Chiara, Trucks Holger, Sander Thomas, Zara Federico, Rossi Andrea, Striano Pasquale, Minetti Carlo, Santorelli Filippo Maria

Abstract excerpt

Pontocerebellar hypoplasia (PCH) type 1 is characterized by the co-occurrence of spinal anterior horn involvement and hypoplasia of the cerebellum and pons. EXOSC3 has been recently defined as a major cause of PCH type 1. Three different phenotypes showing variable severity have been reported. We identified a homozygous mutation [c.395A > C/p.D132A] in EXOSC3 in four patients with muscle hypotonia, developmental...

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Source

Identifiers

PMID: 23564332
DOI: 10.1007/s00415-013-6896-0

Genes

EXOSC3

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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