Hereditary demyelinating neuropathies: from gene to disease.
In the first part of this review on hereditary demyelinating neuropathies genotype-phenotype correlations are made in order to suggest a simplified classification of hereditary demyelinating neuropathies. Secondly pathological mechanisms of most common and some rare genotypes are described to elucidate differences, but also to point out common themes in the pathological mechanisms of these disorders. The review focuses on data derived from human studies.
Hanemann
C O
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Department of Neurology, Zentrum für klinische Forschung, University of Ulm, Helmholtzstrasse 8/1, 89081 Ulm, Germany. oliver.hanemann@medizin.uni-ulm.de
D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006801:Humans; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics; D010641:Phenotype
D009185:Myelin Proteins; C073687:PMP22 protein, human