New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency.
نویسندگان
چکیده
منابع مشابه
New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency.
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].
متن کاملEffects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency
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...
متن کاملAdenosine 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 ...
متن کاملMyotonia congenita and myoadenylate deaminase deficiency: case report.
Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical d...
متن کاملDisruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiency.
A patient with symptoms of easy fatigability, postexercise myalgias, and delayed recovery of muscle strength after activity is described. Skeletal muscle from this patient had <1.0% normal myoadenylate deaminase activity and NH(3) was not released from muscle after ischemic exercise. In association with this enzyme deficiency, exercise led to a >90% reduction in muscle content of adenine nucleo...
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ژورنال
عنوان ژورنال: Annals of the Rheumatic Diseases
سال: 1994
ISSN: 0003-4967
DOI: 10.1136/ard.53.5.353