[Heterogeneity of neural muscular atrophies].
Classification of the hereditary motor and sensory neuropathies is discussed and findings reported in the recent literature are compared to our own findings in a kinship with autosomal dominant CMT. Previous studies in CMT-families with comparable slow nerve conduction velocities had shown positive linkage of this hereditary neuropathy to the Duffy blood group locus; however, blood group typing in the recently studied kinship excluded close linkage, which may indicate the existence of another sub-group in this entity. Testing of visually evoked potentials in this kindred demonstrated significant differences in P 100 latencies of the families of twin brothers. This intrafamilial difference may also be an expression of heterogeneity.
Leblhuber
F
F
Reisecker
F
F
Mayr
W R
WR
Deisenhammer
E
E
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D004200:Diseases in Twins; D004375:Duffy Blood-Group System / Q000235:genetics; D004576:Electromyography; D005074:Evoked Potentials, Visual; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D009046:Motor Neurons / Q000502:physiology; D009133:Muscular Atrophy / Q000235:genetics*; D009431:Neural Conduction; D009900:Optic Nerve / Q000503:physiopathology; D010375:Pedigree; D011930:Reaction Time / Q000502:physiology
D004375:Duffy Blood-Group System
Uber die Heterogenität der neuralen Muskelatrophien.