The contribution of assays for lymphocyte capping and creatine kinase to detection of the Becker-type dystrophy trait.

1980 ◽  
Vol 26 (6) ◽  
pp. 754-759
Author(s):  
B M Goldsmith ◽  
H D Gruemer ◽  
R J Hawley ◽  
N A Pickard ◽  
H L Verrill ◽  
...  

Abstract Members of three unrelated families with the mild Becker type of muscular dystrophy were subjected to lymphocyte capping tests and measurements of serum creatine kinase activity. Both tests correctly identified all nine affected males, but only the capping test was abnormal in seven of eight obligate carriers. The number of capped cells in carriers and affected persons with the Becker-type dystrophy was generally intermediate between those observed for individuals with the Duchenne trait and normal controls, thus potentially aiding in the differential diagnosis between the two myopathies. The lack of sensitivity of measurements of serum creatine kinase activity in identifying carriers is further complicated by the difficulty of establishing reliable reference intervals for this enzyme in 204 healthy controls. Detailed directions for the performance of the capping test are presented.

1980 ◽  
Vol 26 (6) ◽  
pp. 754-759 ◽  
Author(s):  
B M Goldsmith ◽  
H D Gruemer ◽  
R J Hawley ◽  
N A Pickard ◽  
H L Verrill ◽  
...  

Abstract Members of three unrelated families with the mild Becker type of muscular dystrophy were subjected to lymphocyte capping tests and measurements of serum creatine kinase activity. Both tests correctly identified all nine affected males, but only the capping test was abnormal in seven of eight obligate carriers. The number of capped cells in carriers and affected persons with the Becker-type dystrophy was generally intermediate between those observed for individuals with the Duchenne trait and normal controls, thus potentially aiding in the differential diagnosis between the two myopathies. The lack of sensitivity of measurements of serum creatine kinase activity in identifying carriers is further complicated by the difficulty of establishing reliable reference intervals for this enzyme in 204 healthy controls. Detailed directions for the performance of the capping test are presented.


The Lancet ◽  
1979 ◽  
Vol 314 (8156-8157) ◽  
pp. 1370 ◽  
Author(s):  
D.G. Bullock ◽  
F.M. Mcsweeney ◽  
T.P. Whitehead ◽  
J.H. Edwards

Author(s):  
Keiichi Bando ◽  
Kiyoshi Ichihara ◽  
Tsunesuke Shimotsuji ◽  
Hiroyuki Toyoshima ◽  
Kazuma Koda ◽  
...  

Carnosinase hydrolyses carnosine in muscle, and its deficiency is associated with extensive neuromuscular abnormalities. We measured serum carnosinase activity in patients with thyroid dysfunction which often involves neuromuscular systems. In hyperthyroidism, the carnosinase activity was not significantly different from that in normal subjects. In hypothyroidism, however, it was significantly lower than that in normal subjects. The activity examined in five patients with hypothyroidism returned to normal after replacement therapy. In hypothyroidism, the carnosinase activity showed significant correlation with concentration of serum thyroxine and negative correlation with serum creatine kinase activity. This finding may be of practical importance in the differential diagnosis of disorders causing carnosinase deficiency.


1999 ◽  
Vol 279 (1-2) ◽  
pp. 107-115 ◽  
Author(s):  
Eli I. Lev ◽  
Ilan Tur-Kaspa ◽  
Isaac Ashkenazy ◽  
Anat Reiner ◽  
David Faraggi ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document