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Article

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

Genes - 22 Oct 2020

Mironovich Olga, Dadali Elena, Malmberg Sergey, Markova Tatyana, Ryzhkova Oxana, Poliakov Aleksander

Abstract excerpt

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 electrophysiological features found in the patient. RESULTS: We reported a proband with a new de novo missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33105646
DOI: 10.3390/genes11111238
PMCID: PMC7690400

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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