FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum. (September 2019)

• Record Type: Journal Article
• Authors: Forman, Eva B.; Gorman, Kathleen M.; Ennis, Sean; King, Mary D.
• Is Part Of: Journal of child neurology. Volume 34:Number 10(2019:Oct.)
• Page Start: 621
• Page End: 621
• Publication Date: 2019-09
• Subjects: hereditary spastic paraplegia -- FARS2 -- CNV; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073819846805
• Languages: English
• ISSNs: 0883-0738

Abstract

Herein we present two siblings with hereditary spastic paraplegia caused by novel compound heterozygous variant and deletion in FARS2 and expansion of the disease spectrum to include dysphonia.