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Wellstone bilateral tibialis anterior FSHD biopsied muscle study

2 Study cohort

The Wellstone Bilateral muscle biopsy study cohort include 34 subjects, aged 21 to 69, recruited from three medical institutes, University of Washington Medical Center, University of Rochester Medical Center, and Kansas University Medical Center. All participated subjects underwent needle muscle biopsy of both tibialis anterior (TA) muscles. The muscle biopsies (n=68) were processed for MRI characterization, histopathological scoring, RNA extraction for RNA sequencing , and DNA extraction for bisulfite sequencing of the 4qA permissive allele in the region of exon 2-3. Some of the attempted biopsies were not adequate for at least one or two processes, and that include:

  1. 01-0019L, 01-0020R, 01-0029R, 13-0006R were not adequate for histopathological scoring
  2. 13-0006R, 13-0008R/L did not yield sufficient RNA for RNA sequencing
  3. 32-0028L had low RNA Integrity number (RIN=4) and showed RND degradation