Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

I. Andreini, F. Moro, L.M. Africa, A. Rubegni, F.M. Santorelli, C. Scarpini, F. Sicurelli, C. Battisti

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)312-313
Number of pages2
JournalAmyotrophic Lateral Scler. Frontotemporal Degener.
Volume21
Issue number3-4
DOIs
Publication statusPublished - 2020

Keywords

  • helicase
  • aged
  • amyotrophic lateral sclerosis
  • case report
  • clinical article
  • disease exacerbation
  • electroneurography
  • falling
  • female
  • gene
  • genetic variability
  • hereditary motor sensory neuropathy
  • heterozygote
  • high throughput sequencing
  • human
  • Letter
  • missense mutation
  • motoneuron
  • nerve potential
  • onset age
  • phenotype
  • priority journal
  • Sanger sequencing
  • setx gene
  • tendon reflex
  • walking difficulty

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