Article
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
Human molecular genetics - 1 Aug 2013
Ylikallio Emil, Pöyhönen Rosanna, Zimon Magdalena, De Vriendt Els, Hilander Taru, Paetau Anders, Jordanova Albena, Lönnqvist Tuula, Tyynismaa Henna
Abstract excerpt
Inherited peripheral neuropathies are a heterogeneous group of disorders that can affect patients of all ages. Children with inherited neuropathy often develop severe disability, but the genetic causes of recessive early-onset axonal neuropathies are not fully known. We have taken a whole-exome sequencing approach to identify causative disease mutations in single patients with early-onset axonal neuropathy. Here,...
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