title: H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth disease.
abstract: The neuronal type of Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy, type II) was found to be present in ten of thirty-two members of one family. Motor nerve conduction velocities in this type of the disease may be normal in persons who are only mildly affected. Hoffmann-reflex investigation was effective in discriminating between affected and non-affected subjects. The mode of inheritance seemed to be X-linked, but this remained doubtful, because the outcome of the Hoffmann-reflex investigations was abnormal in one clinically non-affected boy. Xg(a)-typing gave no information as to linkage with the gene-locus of CMT. Close linkage between the loci for deutan anomaly and for CMT appeared to be very unlikely.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001789:Blood Group Antigens; D002607:Charcot-Marie-Tooth Disease / Q000097:blood* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D005260:Female; D006181:H-Reflex; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000097:blood*; D010375:Pedigree; D012023:Reflex, Monosynaptic
chemical_list: D001789:Blood Group Antigens