[Autosomal-dominant motor-sensory neuropathy type I: intrafamilial polymorphism in the Roussy-Lévy syndrome].
A family is described in which 12 members in 3 generations suffered from hereditary type 1 motor-sensory neuropathy. Clinical and neurophysiological data allowed to regard the disease in 8 patients as a variant of Roussy-Lévy syndrome. Intrafamilial clinical polymorphism and differential diagnosis of the disease are discussed.
Badalian
L O
LO
Temin
P A
PA
Arkhipov
B A
BA
Avakian
G N
GN
Zavedenko
N N
NN
D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D011110:Polymorphism, Genetic; D013979:Tibial Nerve / Q000503:physiopathology
Autosomno-dominantnaia motorno-sensornaia nevropatiia I tipa: vnutrisemeĭnyĭ polimorfizm sindroma Russi-Levi.