Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype
Qiao Wei,
Hao Yu,
Pei‐Shan Wang
et al.
Abstract:IntroductionHereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders characterized by progressive degeneration of upper motor neurons. Homozygous or compound heterozygous variants in COQ4 have been reported to cause primary CoQ10 deficiency‐7 (COQ10D7), which is a mitochondrial disease.AimsWe aimed to screened COQ4 variants in a cohort of HSP patients.MethodsA total of 87 genetically unidentified HSP index patients and their available family members were recruited. Whole exome sequ… Show more
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