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...
Saved in:
Main Authors: | , , , , , , , , |
---|---|
Format: | Book |
Published: |
Frontiers Media S.A.,
2022-02-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
Call Number: |
A1234.567 |
---|---|
Copy 1 | Available |