Article
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Human genetics - 1 Dec 2019
Llaci Lorida, Ramsey Keri, Belnap Newell, Claasen Ana M, Balak Chris D, Szelinger Szabolcs, Jepsen Wayne M, Siniard Ashley L, Richholt Ryan, Izat Tyler, Naymik Marcus, De Both Matt, Piras Ignazio S, Craig David W, Huentelman Matthew J, Narayanan Vinodh, Schrauwen Isabelle, Rangasamy Sampathkumar
Abstract excerpt
Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy, which is clinically and radiologically similar to X-linked Pelizaeus-Merzbacher disease (PMD). PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse...
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