Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion

• Published in: Neurology Vol. 52; no. 7; p. 1440
• Main Authors: Mouton, P, Tardieu, S, Gouider, R, Birouk, N, Maisonobe, T, Dubourg, O, Brice, A, LeGuern, E, Bouche, P
• Format: Journal Article
• Language: English
• Published: United States 22.04.1999
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Chromosomes, Human, Pair 17 - genetics; Gene Deletion; Hereditary Sensory and Motor Neuropathy - genetics; Hereditary Sensory and Motor Neuropathy - physiopathology; Humans; Middle Aged; Neural Conduction - physiology

To study the clinical and electrophysiologic features of a large series of carriers of the 17p11.2 deletion. The 17p11.2 deletion is associated in most patients with recurrent acute nerve palsies, which is the typical presentation of hereditary neuropathy with liability to pressure palsies (HNPP). N...