Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome

Motor and sensory neuropathies with the clinical features of HMSN III (Dejerine-Sottas syndrome, DSS) are etiologically related to heterozygous mutations in either peripheral myelin protein-22 ( PMP22) or myelin protein zero ( MPZ). Heterozygous mutations in either of these two genes are also respon...

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Veröffentlicht in:	Neuroscience letters 1998-01, Vol.240 (1), p.1-4
Hauptverfasser:	Stögbauer, Florian, Young, Peter, Wiebusch, Heiko, Timmerman, Vincent, Kuhlenbäumer, Gregor, Nelis, Eva, Ringelstein, E.Bernd, Kurlemann, Gerd, Assmann, Gerd, Van Broeckhoven, Christine, Funke, Harald
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Child, Preschool Connexin 32 Connexins - genetics Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction Dejerine-Sottas syndrome Electrophysiology Female Gap Junction beta-1 Protein Genes, Recessive Hereditary Sensory and Motor Neuropathy - genetics Hereditary Sensory and Motor Neuropathy - physiopathology Humans Male Medical sciences Molecular genetics Mutation - genetics Myelin P0 Protein - genetics Myelin protein zero Myelin Proteins - genetics Nervous system (semeiology, syndromes) Neurology Pedigree Peripheral myelin protein-22 Syndrome Twins, Dizygotic - genetics
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