Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations - a case report.
Sofia ThunströmMarcus AxelssonPublished in: BMC neurology (2019)
This case underscores the effect of variable expressivity, i.e. different mutations in the same gene can cause different phenotypes.