Genetic & Genomic MedicineMovement DisordersPeer-reviewed
Loss-of-function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Rui Zhu, Lang Liu, Mehrdad A. Estiar…·Ziv Gan‐Or
The paper investigates whether CPT1C loss-of-function variants cause hereditary spastic paraplegia (HSP) by analyzing genomic data from multiple cohorts and finds no causal association.
DOI 10.1002/mds.70144