Pelizaeus-Merzbacher-like due to HSPD1 mutation (Q93669)
From determinar.ia.br - Determine suas informações
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; ). This type is due to a mutation in the HSPD1 gene.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1602587432 |
||
| English | Pelizaeus-Merzbacher-like due to HSPD1 mutation |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; ). This type is due to a mutation in the HSPD1 gene. |
