Pyruvate-kinase (PK) and creatine-kinase (CK) in normal pregnancy and its implication in genetic counseling of duchenne muscular dystrophy (DMD)

1982 ◽  
Vol 13 (3) ◽  
pp. 257-262 ◽  
Author(s):  
Mayana Zatz ◽  
L. E. Karp ◽  
A. Rogatko ◽  
John M. Opitz
Keyword(s):  
Creatine Kinase ◽  
Genetic Counseling ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Pyruvate Kinase ◽  
Normal Pregnancy

Detection of carriers of X-linked gene for Duchenne muscular dystrophy by levels of creatine kinase and pyruvate kinase

1983 ◽  
Vol 62 (1-3) ◽  
pp. 171-180 ◽  
Author(s):  
Daisy Neves Falcão-Conceição ◽  
Marcia Mattos Gonçalves-Pimentel ◽  
Marcia Leite Baptista ◽  
Sônia Ubatuba
Keyword(s):  
Creatine Kinase ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Pyruvate Kinase ◽  
Linked Gene

Diminished cap formation in lymphocytes from patients and carriers of Duchenne muscular dystrophy.

1977 ◽  
Vol 23 (12) ◽  
pp. 2341-2343 ◽  
Author(s):  
H L Verrill ◽  
N A Pickard ◽  
H D Gruemer
Keyword(s):  
Creatine Kinase ◽  
Genetic Counseling ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Laboratory ◽  
Carrier State ◽  
Childbearing Age ◽  
Plasma Creatine Kinase

Abstract Currently, the most useful clinical laboratory aid in establishing the carrier state of Duchenne muscular dystrophy is to determine creatine kinase (EC 2.7.3.2) activity in the plasma. The considerable overlap between plasma creatine kinase activities of controls and of carriers at the childbearing age contributes appreciable difficulty to genetic counseling of potential carriers. The consistent failure of lymphocyte cap formation in Duchenne muscular dystrophy patients and carriers in this study suggests a valuable tool for the confirmation of the carrier state.

Serum creatine kinase and pyruvate kinase in duchenne muscular dystrophy carrier detection

1979 ◽  
Vol 2 (5) ◽  
pp. 329-339 ◽  
Author(s):  
Maire E. Percy ◽  
Lebe S. Chang ◽  
E. Gordon Murphy ◽  
Irina Oss ◽  
Christine Verellen-Dumoulin ◽  
...  
Keyword(s):  
Creatine Kinase ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Pyruvate Kinase ◽  
Serum Creatine Kinase ◽  
Carrier Detection

Dilution Effect on Serum Creatine Kinase in Carriers of Duchenne Muscular Dystrophy

1979 ◽  
Vol 16 (1-6) ◽  
pp. 54-55 ◽  
Author(s):  
A. C. Simpson ◽  
D. Holmes ◽  
R. J. T. Pennington
Keyword(s):  
Creatine Kinase ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dilution Effect ◽  
Serum Creatine Kinase ◽  
Normal Female ◽  
Female Subjects

Dilution of serum before assay consistently increased the activity of serum creatine kinase both in normal female subjects and in carriers of Duchenne muscular dystrophy.

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