Key result
Patients with MYH7 mutations causing Laing distal myopathy may present with muscle biopsies showing pathologic findings similar to inclusion body myositis.
Case Report
MYH7 mutations causing Laing distal myopathy can present with muscle biopsy findings that pathologically resemble inclusion body myositis.
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.
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Roda et al. (2014) conducted a case report in Laing distal myopathy. MYH7 mutation (c.5186_5188delAGA, p.K1729del) was evaluated on Muscle pathology findings. Patients with MYH7 mutations causing Laing distal myopathy may present with muscle biopsies showing pathologic findings similar to inclusion body myositis.
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