Abstract
DMD in males is the most common and disastrous form of the disease, with relentless rapid muscle loss leading to wheelchair life in childhood, progressive physical distortion and early death. It is transmitted as an X-linked recessive gene by healthy females, though one third of all cases and carriers are new mutants1. In the DMD male patient, the dystrophic X-chromosome performs alone in the multi-nucleated muscle fibre, with rapid wasting towards a fatal issue; but the female DMD carrier is unaffected, with rarely more than an attenuated manifestation like diagnostic serum creatine kinase (CK) elevations2, due to protection after Lyonisation by even a moderate proportion of muscle nuclei run by the normal paternal X-chromosome3,4. similar protection for DMD male muscle should be possible by restoring the essential substances so easily provided by normal but not by dystrophic nuclei. Evidence suggests that these substances are adenine nucleotides, acting through energy-carrying ATP (adenosine 5′-triphosphate) essential to every aspect of cell function.
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Thomson, W.H.S. (1984). X-Linked Recessive (Duchenne) Muscular Dystrophy (DMD) and Purine Metabolism: Effects of Oral Allopurinol and Adenylate. In: De Bruyn, C.H.M.M., Simmonds, H.A., Müller, M.M. (eds) Purine Metabolism in Man-IV. Advances in Experimental Medicine and Biology, vol 165. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0390-0_86
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DOI: https://doi.org/10.1007/978-1-4757-0390-0_86
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