Identification of a Novel <i>de Novo</i> Variant in the <i>SYT2</i> Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy

Identification of a Novel <i>de Novo</i> Variant in the <i>SYT2</i> Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy

Objective: To report the first <i>de novo</i> missense mutation in the <i>SYT2</i> gene causing distal hereditary motor neuropathy. Methods: Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his pare...

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Bibliographic Details
Main Authors: Olga Mironovich, Elena Dadali, Sergey Malmberg, Tatyana Markova, Oxana Ryzhkova, Aleksander Poliakov
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Genes
Subjects:
hereditary motor neuropathy
<i>SYT2</i> mutation
first <i>de novo</i> mutation
electrophysiological testing
Online Access:https://www.mdpi.com/2073-4425/11/11/1238

Internet

https://www.mdpi.com/2073-4425/11/11/1238

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