Publications by authors named "Elizabeth H Michelle"

Article Synopsis
  • The study investigates inclusion body myositis (IBM), focusing on the role of TDP-43 protein and its implications in muscle pathology.
  • It found that cryptic peptides linked to TDP-43 were present in 65% of muscle biopsies from IBM patients, but absent in other controls, indicating potential as a biomarker for IBM.
  • The findings suggest that restoring TDP-43 function might help slow down muscle degeneration in patients with this disease.
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Background And Objectives: Sporadic inclusion body myositis (IBM) is the most common acquired myopathy in individuals older than 50 years. The disorder is slowly progressive, and although many therapies have been investigated, response has generally been poor. Clinical heterogeneity may influence treatment responsiveness; however, data regarding heterogeneity in IBM are limited and often conflicting.

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We report the cases of 2 patients who presented to our Myositis Center with myalgias and elevated creatine kinase levels. Muscle biopsy showed pathological features consistent with mitochondrial myopathy. In both cases, a single large deletion in mitochondrial DNA at low-level heteroplasmy was identified by next-generation sequencing in muscle tissue.

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