Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

doi:10.1212/WNL.0b013e31827f0f66

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Article

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Neurology - 29 Jan 2013

Rudnik-Schöneborn Sabine, Senderek Jan, Jen Joanna C, Houge Gunnar, Seeman Pavel, Puchmajerová Alena, Graul-Neumann Luitgard, Seidel Ulrich, Korinthenberg Rudolf, Kirschner Janbernd, Seeger Jürgen, Ryan Monique M, Muntoni Francesco, Steinlin Maja, Sztriha Laszlo, Colomer Jaume, Hübner Christoph, Brockmann Knut, Van Maldergem Lionel, Schiff Manuel, Holzinger Andreas, Barth Peter, Reardon William, Yourshaw Michael, Nelson Stanley F, Eggermann Thomas, Zerres Klaus

Abstract excerpt

OBJECTIVES: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of PCH1. We aim...

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Identifiers

PMID: 23284067
DOI: 10.1212/WNL.0b013e31827f0f66
PMCID: PMC3590055

Genes

EXOSC3

Variants

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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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