GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

Sabine Kovale, Ruta Terauda, Elina Millere, Gita Taurina, Daiga Murmane, Jekaterina Isakova, Viktorija Kenina, Linda Gailite (Coresponding Author)

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)
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X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene. We described 2 extended cases (families) with CMTX1 with identified pathogenic variants - p.Val139Met and p.Arg215Trp. In both the families, neurological symptoms started earlier in male than in female patients. In some family members, molecular diagnostics was performed prior to neurological investigation due to family cascade screening. There was variable neurological phenotype representing CMT. Conclusions: There is a large clinical heterogeneity in CMTX, even amongst the family members.

Original languageEnglish
Pages (from-to)422-428
Number of pages7
JournalCase Reports in Neurology
Issue number2
Publication statusPublished - 23 Jun 2021


  • Charcot-Marie-Tooth disease
  • GJB1
  • X-linked Charcot-Marie-Tooth disease

Field of Science*

  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


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