Peroneal muscular atrophy with parkinsonism, ptosis, and congenital strabismus

2009 ◽  
Vol 88 (4) ◽  
pp. 251-253 ◽  
Author(s):  
U. Scoditti ◽  
F. Gemignani ◽  
F. Colonna ◽  
L. Ludovico ◽  
L. Bettoni
1984 ◽  
Vol 7 (1) ◽  
pp. 32-34 ◽  
Author(s):  
Erich W. Streib ◽  
Sallie F. Sun ◽  
William Kimberling ◽  
Stephen A. Smith

1974 ◽  
Vol 23 (S1) ◽  
pp. 217-220 ◽  
Author(s):  
H. Warner Kloepfer ◽  
James M. Killian

This study involves the presentation of a kindred from Southwestern Louisiana showing 66 individuals who were heterozygous for a rare dominant gene for a type of Charcot-Marie-Tooth disease with hypertrophy of peripheral nerves. Two marriages between heterozygotes resulted in the occurrence of five homozygous offsprings. Clinical features of these previously undescribed homozygotes are compared to the clinical features of the classic type of heterozygote. The value of using nerve-conduction time to detect the asymptomatic heterozygote for Charcot-Marie-Tooth disease is discussed.


1981 ◽  
Vol 30 (2) ◽  
pp. 151-155 ◽  
Author(s):  
Kozaburo ESAKI ◽  
Yukio YASUDA ◽  
Masahiro NAKAMURA ◽  
Hiromu HAYASHI ◽  
Keiro ONO

1978 ◽  
pp. 441-446 ◽  
Author(s):  
P. MARTINELLI ◽  
P. PAZZAGLIA ◽  
P. MONTAGNA ◽  
P. TINUPER ◽  
G. MORETTO ◽  
...  

The Lancet ◽  
1933 ◽  
Vol 222 (5749) ◽  
pp. 1026-1029 ◽  
Author(s):  
Ian Gordon

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