Article
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy.
Neuromuscular disorders : NMD - 1 Jan 2014
Roth Lisa A, Johnson-Kerner Bethany L, Marra Jonathan D, LaMarca Nicole H, Sproule Douglas M
Abstract excerpt
Giant Axonal Neuropathy is a pediatric neurodegenerative disorder caused by autosomal recessive mutations in the GAN gene on chromosome 16q24.1. Mutations in the GAN gene lead to functional impairment of the cytoskeletal protein gigaxonin and a generalized disorder of intermediate filaments, incl...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.