SARS1 (SerRS) Causing De Novo Dominant Charcot-Marie-Tooth Disease with Slow Conduction

Ann Neurol. 2023 Dec;94(6):1187-1188. doi: 10.1002/ana.26792. Epub 2023 Oct 3.

Authors

Christopher J Record¹, Mariola Skorupinksa¹, Stephan Zuchner², Julian Blake^{1

3}, Mary M Reilly¹

Affiliations

¹ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
² Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
³ Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.

PMID: 37706277
DOI: 10.1002/ana.26792

No abstract available

Publication types

Letter
Comment

MeSH terms

Charcot-Marie-Tooth Disease* / genetics
Humans
Mutation
Neural Conduction
Pedigree
Phenotype