Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

This publication has 8 references indexed in Scilit:

• Dejerine-sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible ?hot spot? on Ser72
  Annals of Neurology, 1998
• Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
  Nature Genetics, 1998
• Molecular bases of myelin formation as revealed by investigations on mice deficient in glial cell surface molecules
  Glia, 1997
• Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome
  Brain, 1997
• Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination
  Neuron, 1996
• Peripheral myelin protein 22: Facts and hypotheses
  Journal of Neuroscience Research, 1995
• The status of HMSN type III
  Neuromuscular Disorders, 1994
• Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene
  New England Journal of Medicine, 1993