Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.
The existence of an X-linked sensorimotor peripheral neuropathy has been debated. We reevaluated the original family, and present data on 13 affected males and 25 obligate or probable heterozygous females, documenting the devastating nature of the disease in the men and the extremely variable degree of clinical involvement in the carriers. Use of DNA probes indicates that the gene lies in the DXYS1-p58-1 region of the X-chromosome.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D008040:Genetic Linkage; D005819:Genetic Markers; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction; D010375:Pedigree; D014960:X Chromosome
D005819:Genetic Markers