Clinical Phenotypes of Different MPZ (P 0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP), Charcot–Marie–Tooth disease (CMT), Dejerine–Sottas syndrome (DSS), and congenital hypomyelination (CH). The clinical c...

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Veröffentlicht in:	Neuron (Cambridge, Mass.) Mass.), 1996-09, Vol.17 (3), p.451-460
Hauptverfasser:	Warner, Laura E, Hilz, Max J, Appel, Stanley H, Killian, James M, Kolodny, Edwin H, Karpati, George, Carpenter, Stirling, Watters, Gordon V, Wheeler, Calvin, Witt, David, Bodell, Adria, Nelis, Eva, Van Broeckhoven, Christine, Lupski, James R
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Charcot-Marie-Tooth Disease - diagnosis Charcot-Marie-Tooth Disease - genetics Cloning, Molecular Cohort Studies Crystallography Demyelinating Diseases - congenital Demyelinating Diseases - diagnosis Demyelinating Diseases - genetics DNA Mutational Analysis Female Genotype Hereditary Sensory and Motor Neuropathy - diagnosis Hereditary Sensory and Motor Neuropathy - genetics Humans Male Microscopy, Electron Myelin P0 Protein - chemistry Myelin P0 Protein - genetics Phenotype Point Mutation - physiology Protein Conformation Sural Nerve - ultrastructure
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