Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation - Bienfait, H M E; Faber, C G; Baas, F; Gabreëls-Festen, A A W M; Koelman, J H T M; Hoogendijk, J E; Verschuuren, J J; Wokke, J H J; de Visser, M (Journal of neurology, neurosurgery and psychiatry, 2006)
Keywords: Adult; Age; Age of Onset; Aged; Ankle; Axons - pathology; Biological and medical sciences; Biopsy; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - epidemiology; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - pathology; CMT; Cohort Studies; Connexins - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dejerine-Sottas syndrome; Demyelinating Diseases - pathology; Deoxyribonucleic acid; Diseases of striated muscles. Neuromuscular diseases; DNA; DNA Mutational Analysis; DSS; Female; Foot diseases; Gap Junction beta-1 Protein; Genes; Genotype & phenotype; Humans; Intracellular Signaling Peptides and Proteins - genetics; Male; Median Nerve - physiopathology; Medical sciences; Middle Aged; MNCV; motor nerve conduction velocity; MPZ; Mutation; Myelin P0 Protein - genetics; myelin protein zero gene; Myelin Proteins - genetics; Neural Conduction - physiology; Neurology; Pain; Patients; Pedigree; Phenotype; Phosphoproteins - genetics; Point Mutation; Polymorphism, Single-Stranded Conformational; Proteins; Short Report; single strand confirmation polymorphism analysis; SSCP; Sural Nerve - pathology; Sural Nerve - physiopathology; Ulnar Nerve - physiopathology; Neuromuscular diseases; Phenotype; Nervous system diseases; Charcot Marie Tooth disease; Myelin; Central nervous system disease; Degenerative disease; Mutation; Spinal cord disease; Protein; Genetic disease