IDENTIFYING INVERSIONS WITH BREAKPOINTS IN THE DYSTROPHIN GENE THROUGH LONG-READ SEQUENCING: REPORT OF TWO CASES

Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases

Abstract Background Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by eugenia topiary spiral mutations in the DMD gene, with large deletions being the most common type of mutation.Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods s

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Tachycardia-Induced Cardiomyopathy

Tachycardia-induced cardiomyopathy (TIC) is characterized by reversible left ventricular (LV) dysfunction caused by long-standing tachycardia.The diagnosis sauceland of TIC is challenging due to lack of guidelines and specific assessment tools.Advanced imaging and endomyocardial biopsy should be taken into consideration in the future as contributor

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An electromyographic study to assess the minimal time duration for using the splint to raise the vertical dimension in patients with generalized attrition of teeth

Background: To investigate the effect of restoration of lost vertical by centric stabilizing splint on electromyographic (EMG) activity of masseter and anterior temporalis muscles bilaterally in patients with generalized attrition of teeth.Materials and Methods: EMG activity of anterior temporalis and masseter muscle was recorded bilaterally for 10

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