Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation
Abstract
Leigh syndrome, which is a common phenotype of pediatric mitochondrial disease, is a progressive neurodegenerative disease. The typical neuroimaging findings of Leigh syndrome include bilateral symmetric lesions in the basal ganglia and/or the brainstem. However, there are a few reports on spinal cord involvement in patients with Leigh syndrome. In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric...
Paper Details
Title
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation
Published Date
Jun 1, 2018
Journal
Volume
40
Issue
6
Pages
498 - 502
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