De novo SPAST mutations may cause a complex SPG4 phenotype

Jolanda H. Schieving, Susanne T. de Bot, Laura A. van de Pol, Nicole I. Wolf, Eva H. Brilstra, Suzanna G. Frints, Judith van Gaalen, Mala Misra-lsrie, Maartje Pennings, Corien C. Verschuuren-Bemelmans, Erik-Jan Kamsteeg, Bart P. van de Warrenburg, Michel A. Willemsen*

*Corresponding author for this work

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

6 Citations (Web of Science)
Original languageEnglish
Article numbere31
Number of pages5
JournalBrain
Volume142
Issue number7
DOIs
Publication statusPublished - Jul 2019

Keywords

  • PARAPLEGIA CLINICAL-FEATURES
  • AUTOSOMAL-DOMINANT
  • SOMATIC MOSAICISM
  • SPECTRUM
  • ONSET
  • FREQUENT
  • CHILDREN
  • PROTEIN
  • SERIES
  • ATL1

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