Different Proteolipid Protein Mutants Exhibit Unique Metabolic Defects
PMD (Pelizaeus–Merzbacher disease), a CNS (central nervous system) disease characterized by shortened lifespan and severe neural dysfunction, is caused by mutations of the PLP1 (X-linked myelin proteolipid protein) gene. The majority of human PLP1 mutations are caused by duplications; almost all oth...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2009-08-01
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| Series: | ASN Neuro |
| Online Access: | https://doi.org/10.1042/AN20090028 |