Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family

Brain. 2017 Aug 1;140(8):e46. doi: 10.1093/brain/awx147.

Tessa van Dijk¹, Sabine Rudnik-Schöneborn^{2

3}, Jan Senderek⁴, Ghazaleh Hajmousa¹, Hailiang Mei⁵, Marina Dusl⁴, Eleonora Aronica⁶, Peter Barth⁷, Frank Baas^{1

8}

¹ Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
² Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
³ Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
⁴ Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany.
⁵ Sequencing Analysis Support Core, Leiden University Medical Center, Leiden, The Netherlands.
⁶ Department of (Neuro) Pathology, Academic Medical Center, Amsterdam, The Netherlands.
⁷ Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.
⁸ Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

No abstract available

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