Pelizaeus–Merzbacher disease

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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.

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