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

Objective: To report the first de novo missense mutation in the SYT2 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 parents. We described the clinical and ele...

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Detalles Bibliográficos
Autores principales: Mironovich, Olga, Dadali, Elena, Malmberg, Sergey, Markova, Tatyana, Ryzhkova, Oxana, Poliakov, Aleksander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690400/
https://www.ncbi.nlm.nih.gov/pubmed/33105646
http://dx.doi.org/10.3390/genes11111238

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690400/
https://www.ncbi.nlm.nih.gov/pubmed/33105646
http://dx.doi.org/10.3390/genes11111238

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