title: Laing distal myopathy pathologically resembling inclusion body myositis.
abstract: 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.
authors.affiliation: Neuromuscular Disorders and Neurogenetics Divisions, Department of Neurology, New York University Langone Medical Center New York, New York ; Cell Biology Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda, Maryland.
authors.forename: Ricardo H
authors.initials: RH
authors.lastname: Roda
authors.affiliation: Hereditary Neurological Diseases Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda, Maryland.
authors.forename: Alice B
authors.initials: AB
authors.lastname: Schindler
authors.affiliation: Cell Biology Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda, Maryland.
authors.forename: Craig
authors.initials: C
authors.lastname: Blackstone
authors.affiliation: Department of Neurology, Johns Hopkins University School of Medicine Baltimore, Maryland ; Department of Medicine, Johns Hopkins University School of Medicine Baltimore, Maryland ; Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, National Institutes of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health Bethesda, Maryland.
authors.forename: Andrew L
authors.initials: AL
authors.lastname: Mammen
authors.affiliation: Department of Neurology, Johns Hopkins University School of Medicine Baltimore, Maryland.
authors.forename: Andrea M
authors.initials: AM
authors.lastname: Corse
authors.affiliation: Department of Neurology, Johns Hopkins University School of Medicine Baltimore, Maryland ; Department of Neuroscience, Johns Hopkins University School of Medicine Baltimore, Maryland.
authors.forename: Thomas E
authors.initials: TE
authors.lastname: Lloyd