Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene
Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected female...
| Main Authors: | , , , |
|---|---|
| Format: | Online |
| Language: | English |
| Published: |
Hindawi Publishing Corporation
2015
|
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4348602/ |