Associated Papers
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA et al.
Journal of Inherited Metabolic Disease, 2024
Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.
Qiu Y et al.
Annals of Clinical and Translational Neurology, 2024
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.
Sait H et al.
Journal of Genetics, 2024
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Smith IC et al.
Neurology. Genetics, 2023
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