Genetic characteristics of myoadenylate deaminase deficiency
| Autor: | Jeroen Luyten, Gerry Steenbergen, H. T. F. M. Verzijl, George W. Padberg, Ron A. Wevers, L.P.W.J. van den Heuvel, H.J. ter Laak, B.G.M. van Engelen |
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| Rok vydání: | 1998 |
| Předmět: |
animal structures
Biopsy Population Biology Polymerase Chain Reaction Genetic determinism AMP Deaminase Genetische en metabole aspecten van neuromusculaire aandoeningen Humans Point Mutation In patient Allele Muscle Skeletal education Genetical and metabolic aspects of neuromuscular diseases education.field_of_study Chi-Square Distribution Base Sequence Point mutation Genetic variants AMP deaminase DNA Neuromuscular Diseases humanities Neurology Dutch Population Immunology Exercise Test Neurology (clinical) |
| Zdroj: | Annals of Neurology, 44, 140-143 Annals of Neurology, 44, 1, pp. 140-143 |
| ISSN: | 0364-5134 |
| Popis: | Two types of myoadenylate deaminase (MAD) deficiency have been described, primary or inherited, and secondary or acquired MAD deficiency. In this study, we investigated whether secondary MAD deficiency is indeed acquired or merely coincidental. We demonstrated the same underlying molecular defect, a C34T transition, in both types of deficiency. Furthermore, the same frequency of the mutant MAD allele was found in the general population as in patients with neuromuscular complaints. We therefore conclude that in the Dutch population, secondary MAD deficiency is merely a "coincidental" finding, and that MAD deficiency is a harmless genetic variant. |
| Databáze: | OpenAIRE |
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