Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease

J Neurol Neurosurg Psychiatry. 2023 Apr;94(4):327-328. doi: 10.1136/jnnp-2022-330223. Epub 2022 Nov 14.

Authors

Christopher J Record¹, Menelaos Pipis¹, Roy Poh², James M Polke², Mary M Reilly³

Affiliations

¹ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
² Neurogenetics Laboratory, UCL Queen Square Institute of Neurology, London, UK.
³ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK [email protected].

No abstract available

Keywords: GENETICS; HMSN (CHARCOT-MARIE-TOOTH); NEUROGENETICS; NEUROPATHY.

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Charcot-Marie-Tooth Disease* / diagnosis
Charcot-Marie-Tooth Disease* / genetics
Genetic Testing
High-Throughput Nucleotide Sequencing
Humans
Mutation

Grants and funding