New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency.
نویسنده
چکیده
serum positive for anti-HIV-I antibody, R-N; reference serum negative for anti-HIV-I antibody, H-(1); healthy control positive for anti-P25 antibody, SY; syphilis patient (S-6) positive for anti-P25 and anti-P55 antibodies, SLE-(1); SLE patient (LA/aCL negative) (N-9) positive for anti-P52 and anti-P68 antibodies, SLE-(2); SLE patient with aCL (C-2), positive for anti-P25 and anti-P52 antibodies].
منابع مشابه
Adenosine monophosphate deaminase deficiency
Keywords Disease name and synonyms AMP deaminase AMP deaminase deficiency Diagnosis criteria-definition Differential diagnosis Prevalence Clinical description Management Etiology Diagnostic methods Unresolved questions References Abstract There are two types of adenosine monophosphate deaminase deficiency. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism ...
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PURPOSE Current evidence indicates that the common AMPD1 gene variant is associated with improved survival in patients with advanced heart failure. Whilst adenosine has been recognized to mediate the cardioprotective effect of C34T AMPD1, the precise pathophysiologic mechanism involved remains undefined to date. To address this issue, we used cardio-pulmonary exercise testing data (CPX) from su...
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Deficiency of myoadenylate deaminase, the muscle isoform of AMP deaminase encoded by the AMPD1 gene, is a common myopathic condition associated with alterations in skeletal muscle energy metabolism. However, recent studies have demonstrated that most individuals harboring this genetic abnormality are asymptomatic. Therefore, 18 healthy subjects with different AMPD1 genotypes were studied during...
متن کاملEffect of isolated AMP deaminase deficiency on skeletal muscle function☆
Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2-3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a ...
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ورودعنوان ژورنال:
- Annals of the rheumatic diseases
دوره 53 5 شماره
صفحات -
تاریخ انتشار 1994