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Fig. 1 | BMC Medical Genetics

Fig. 1

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

Fig. 1

a Pedigree chart of the family, arrows indicate subjects enrolled in this study. Electropherograms obtained by Sanger sequencing demonstrate the heterozygous missense variant SEPT9:c.1406 T > C, p.Val469Ala in subject II.3 and III.4, which was not detected in the healthy subject III.2. b Lower extremities of patient II.3; c lower extremities of patient III.4. d Results from neuropsychological assessment using the CERADplus test battery in patients II.3 and III.4. Dashed line: II.3 (2014); dotted line: II.3 (2015); solid line: III.4 (2016). z < − 2.0: severely affected; − 1.99 < z < − 1.50: mildly affected; − 1.49 < z < − 1.0: marginal affected; z ≥ − 1.0: unaffected. Visuo constructive abilities from II.3 could not be measured in 2015 due to severe motor dysfunctions. e MRI of patient II.3, T2 coronar

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