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Research Article: Identification of Two Novel Variants of the DMD Gene in Chinese Families with Duchenne Muscular Dystrophy

Date Published: 2023-08-17

Abstract:
Duchenne muscular dystrophy (DMD, OMIM#) is a severe X-linked recessive, inherited neuromuscular disorder, characterized by rapidly progressive muscle weakness and muscle wasting throughout the body. DMD is more common in males than females, with an incidence rate of : and :,,, respectively. Female heterozygotes theoretically have % normal cells due to random X–inactivation and thus usually do not manifest muscle dysfunction. However, it has been reported that some female heterozygotes could develop cardiac dysfunction, muscle weakness or exercise intolerance, which could be attributed to the skewed X–inactivation. Patients with DMD generally show early symptoms at around – years of age, become wheelchair-dependent by the time of – years of age, and die of cardiac or respiratory failure at around years of age.

Introduction:
Duchenne muscular dystrophy (DMD, OMIM#) is a severe X-linked recessive, inherited neuromuscular disorder, characterized by rapidly progressive muscle weakness and muscle wasting throughout the body. DMD is more common in males than females, with an incidence rate of : and :,,, respectively. Female heterozygotes theoretically have % normal cells due to random X–inactivation and thus usually do not manifest muscle dysfunction. However, it has been reported that some female heterozygotes could develop cardiac…

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