Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family
BackgroundThe serine active site-containing protein 1 (SERAC1) biallelic variant usually causes MEGDEL syndrome, clinically characterized by increased excretion of 3-methylglutaconic in the urine, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain MRI scans. In this study, we...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2022-02-01T00:00:00Z.
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