Expanding the Clinical and Mutational Spectrum of the <i>PLP1</i>-Related Hypomyelination of Early Myelinated Structures (HEMS)
The <i>PLP1</i> gene, located on chromosome Xq22, encodes the proteolipid protein 1 and its isoform DM20. Mutations in <i>PLP1</i> cause a spectrum of white matter disorders of variable severity. Here we report on four additional HEMS patients from three families harboring th...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-01-01
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| Series: | Brain Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2076-3425/11/1/93 |