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Article

Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.

BMC medical genetics - 2 Mar 2020

Grosse Gerrit M, Bauer Christine, Kopp Bruno, Schrader Christoph, Osmanovic Alma

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes of CMT leading to improved diagnostics and understanding of pathophysiological mechanisms. However, some patients and families remain genetically unsolved. METHODS: We report on a German family...

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Identifiers

PMID: 32122354
DOI: 10.1186/s12881-020-0984-7
PMCID: PMC7050135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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