Overview

Pelizaeus–Merzbacher disease


Show Summary Details

Quick Reference

An X-linked recessive dysmyelinating disorder of the central nervous system in which myelin is improperly formed because of mutation in the proteolipid protein (PLP1) gene. Mouse model is jimpy. Autosomal recessive Pelizaeus–Merzbacher-like disorders (PMLD) have also been described: PMLD1, caused by mutation in the GJA12 gene that encodes connexin 46, and PMLD2 in which the mutation is at a different (unknown) locus.

Subjects: Medicine and Health.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.