Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.
The recent progress of molecular genetics has considerably increased our knowledge about the underlying disease mechanism of inherited peripheral neuropathies. Mutations in three genes coding for the myelin proteins peripheral myelin protein 22, myelin protein zero and connexin 32 and in one gene coding for the transcription factor early growth response 2 element are associated with Charcot-Marie-Tooth type 1 and 2, hereditary neuropathy with liability to pressure palsies, Dejerine-Sottas syndrome and congenital hypomyelination. This review focuses on the correlation of the different human phenotypes associated with distinct mutations with those found in cellular and animal models.
Nelis
E
E
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Laboratory of Neurogenetics, Born-Bunge Foundation, University of Antwerp, Department of Biochemistry, Antwerpen, Belgium.
Timmerman
V
V
De Jonghe
P
P
Van Broeckhoven
C
C
Rautenstrauss
B
B
D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology / Q000639:trends*; D009185:Myelin Proteins / Q000235:genetics*
D009185:Myelin Proteins