Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity |
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Institution: | 1. Centro de Educação Física e Desportos, Universidade Federal do Espírito Santo, Vitória, Brazil;2. Departamento de Fisiologia, Universidade Federal de São Paulo, São Paulo, Brazil;3. Setor de Fisiologia Humana e do Exercício, Laboratório de Avaliação do Movimento Humano, Faculdade de Educação Física e Dança, Universidade Federal de Goiás, Goiânia, Brazil |
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Abstract: | A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori’s trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highly organized, hexagonally cross-linked crystalloid structure. Mutations in the caveolin-3 encoding gene were excluded. Biochemical assessment of glycogenolysis in muscle was normal. Inherited or sporadic myopathy with hexagonally cross-linked tubular arrays is associated with a homogeneous clinical and histopathological phenotype. This myopathy should be included in the differential diagnosis of patients with exercise intolerance and myalgia. |
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