Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.

This report describes a new neurologic phenotype of -related primary CoQ deficiency. Novel aspects of the phenotype presented by this family include pure distal motor neuropathy involvement, as well as the lack of upper motor neuron features, cognitive delay, or sensory involvement in comparison with cases of -related CoQ deficiency previously reported in the literature.