LD90.2
Pelizaeus-Merzbacher-like disease
Doença semelhante a Pelizaeus-Merzbacher (PMLD)
CategoryDefinition
Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).
Index Terms
Pelizaeus-Merzbacher-like diseasePelizaeus-Merzbacher-like due to AIMP1 mutationPelizaeus-Merzbacher-like due to GJC2 mutationPelizaeus-Merzbacher-like due to HSPD1 mutationPelizaeus-Merzbacher-like due to SLC16A2 mutation