Pelizaeus-Merzbacher-like due to SLC16A2 mutation (Q93659): Difference between revisions
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A doença semelhante a Pelizaeus-Merzbacher (PMLD) é uma leucodistrofia autossômica recessiva que compartilha manifestações clínicas e radiológicas idênticas à doença de Pelizaeus-Merzbacher ligada ao X (PMD). Este tipo é devido a uma mutação no gene SLC16A2. | |||
| description / en | description / en | ||
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 SLC16A2 gene. | |||
Revision as of 08:45, 16 August 2026
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 SLC16A2 gene.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1381085790 |
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| English | Pelizaeus-Merzbacher-like due to SLC16A2 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 SLC16A2 gene. |
