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

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; ... (2013). Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology, 80(5), pp. 438-46. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1212/WNL.0b013e31827f0f66

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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 to genetically stratify subjects in a large and well-defined cohort to define the clinical spectrum and genotype-phenotype correlation.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Steinlin, Maja

ISSN:

0028-3878

Publisher:

Lippincott Williams & Wilkins

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:41

Last Modified:

17 Mar 2015 21:35

Publisher DOI:

10.1212/WNL.0b013e31827f0f66

PubMed ID:

23284067

Web of Science ID:

000314159600011

URI:

https://boris.unibe.ch/id/eprint/16580 (FactScience: 224248)

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