Laing distal myopathy pathologically resembling inclusion body myositis

Ricardo H. Roda, Alice B. Schindler, Craig Blackstone, Andrew L. Mammen, Andrea M. Corse, Thomas E. Lloyd

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Mutations in MYH7 cause autosomal dominant Laing distal myopathy. We present a family with a previously reported deletion (c.5186_5188delAGA, p.K1729del). Muscle pathology in one family member was characterized by an inflammatory myopathy with rimmed vacuoles, increased MHC Class I expression, and perivascular and endomysial muscle inflammation comprising CD3+, CD4+, CD8+, and CD68+ inflammatory cells. Interestingly, this biopsy specimen contained TDP-43, p62, and SMI-31-positive protein aggregates typical of inclusion body myositis. These findings should alert physicians to the possibility that patients with MYH7 mutations may have muscle biopsies showing pathologic findings similar to inclusion body myositis.

Original languageEnglish (US)
Pages (from-to)1053-1058
Number of pages6
JournalAnnals of Clinical and Translational Neurology
Issue number12
StatePublished - Dec 2014

ASJC Scopus subject areas

  • General Neuroscience
  • Clinical Neurology


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