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Case Reports
. 2019 Sep;34(10):621.
doi: 10.1177/0883073819846805. Epub 2019 May 19.

FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum

Eva B Forman  1   2 , Kathleen M Gorman  1   2 , Sean Ennis  2 , Mary D King  1   2
Affiliations
Case Reports

FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum

Eva B Forman et al. J Child Neurol. 2019 Sep.

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.

Keywords: CNV; FARS2; hereditary spastic paraplegia.

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