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. 2018 Sep 26;90(2):195–202. doi: 10.1136/jnnp-2018-318839

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© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0

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Genetic spectrum of 301 cases with pathogenic or likely pathogenic variants. The following genes are indicated: GJB1 (21.9%), MFN2 (21.9%), MPZ (16.9%), HSPB1 (4.6%), PMP22 point mutation (4.3%), GDAP1 (3.0%), NEFL (3.0%), MME (2.7%), BSCL2 (2.0%), MARS (2.0%), DNM2 (1.7%), SETX (1.7%), SH3TC2 (1.7%), PRX (1.3%), GARS (1.0%), IGHMBP2 (1.0%), LRSAM1 (1.0%), AARS (0.7%), ARHGEF10 (0.7%), FGD4 (0.7%), SACS (0.7%), SBF2 (0.7%), TRPV4 (0.7%), TTR (0.7%), COA7 (0.3%), DCTN1 (0.3%), DHTKD1 (0.3%), EGR2 (0.3%), FBLN5 (0.3%), GALC (0.3%), GAN (0.3%), HARS (0.3%), HSPB3 (0.3%), HSPB8 (0.3%), INF2 (0.3%), KARS (0.3%), MTMR2 (0.3%), PRPS1 (0.3%), RAB7A (0.3%) and SOX10 (0.3%).