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
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP et al.
Brain : a Journal of Neurology, 2023
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Jacquier A et al.
Brain : a Journal of Neurology, 2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2023
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Smith IC et al.
Neurology. Genetics, 2023
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options.
Wang Y et al.
Molecular Genetics and Metabolism Reports, 2022
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
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