MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis

Brain. 2016 Dec;139(Pt 12):e70. doi: 10.1093/brain/aww252. Epub 2016 Oct 29.

Authors

Gudrun Schottmann¹, Christiane Wagner², Franziska Seifert¹, Werner Stenzel³, Markus Schuelke¹

Affiliations

¹ 1 Department of Neuropaediatrics and NeuroCure Clinical Research Center, Charité Universitätsmedizin-Berlin, Germany.
² 2 Sana Klinikum Lichtenberg, Department of Neuropaediatrics, Berlin, Germany.
³ 3 Institute of Neuropathology, Charité - Universitätsmedizin Berlin, Germany.

PMID: 27794525
DOI: 10.1093/brain/aww252

No abstract available

Publication types

Letter
Comment

MeSH terms

Atrophy
Humans
Muscular Atrophy, Spinal / genetics*
Mutation
Phenotype
Respiratory Paralysis / genetics*