A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.

doi:10.1016/j.braindev.2015.12.002

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Article

A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.

Brain & development - 1 Jun 2016

Omata Taku, Nagai Jun-Ichi, Shimbo Hiroko, Koizume Shiro, Miyagi Yohei, Kurosawa Kenji, Yamashita Sumimasa, Osaka Hitoshi, Inoue Ken

Abstract excerpt

A patient with an unusually mild form of Pelizaeus-Merzbacher disease was studied. Clinically, mild developmental delay with acquisition of assisted walking at 16months and mild spastic tetraplegia were evident, but no nystagmus, cerebellar, or extra-pyramidal signs were present. PLP1 mutation analysis revealed a nucleotide substitution adjacent to the acceptor site of intron 3, NM_000533.4:c.454-9T>G. Expression...

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PMID: 26725305
DOI: 10.1016/j.braindev.2015.12.002

Genes

PLP1

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