Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis
- 30 November 2005
- journal article
- case report
- Published by Elsevier in Neuromuscular Disorders
- Vol. 15 (11) , 764-767
- https://doi.org/10.1016/j.nmd.2005.08.001
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Mutational analysis ofPMP22, MPZ, GJB1, EGR2 andNEFL in Korean Charcot-Marie-Tooth neuropathy patientsHuman Mutation, 2004
- Disease mechanisms in inherited neuropathiesNature Reviews Neuroscience, 2003
- Screening of the early growth response 2 gene in Japanese patients with Charcot–Marie–Tooth disease type 1Journal of the Neurological Sciences, 2003
- Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathiesJournal of Medical Genetics, 2002
- A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot–Marie–Tooth disease type 1Journal of the Neurological Sciences, 2001
- A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 diseaseHuman Mutation, 1999
- Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotypeNeurology, 1999
- Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathiesNature Genetics, 1998
- Krox-20 controls myelination in the peripheral nervous systemNature, 1994
- Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with "zinc-binding finger" structure.Proceedings of the National Academy of Sciences, 1988