HNRNPA1 mutations should be considered in unsolved distal myopathies in dominant families

Takeaway

  • Dominant distal myopathy 3 is caused by a small exon 10 deletion in the HNRNPA1 gene.

Why this matters

  • Distal myopathies are hereditary disorders with progressive muscle weakness which is first seen in the hands and/or ankles. This novel study used dense genome-wide genotyping array to identify the genetic cause of adult-onset distal myopathy in a large Finnish family with a dominant mode of inheritance.

  • The unique findings suggest that the HNRNPA1 gene should be investigated in all unsolved distal myopathies especially in dominant families.