Additional file 1: of Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
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Clinical, molecular, histopathological and ultrastructural findings for the patients. Table S1 Clinical and molecular findings in the DNM2 severe cases. Figure S1 Histopathological and ultrastructural findings for the patients. Patients 1, 2 and 3: Hematoxilin-eosin (HE) staining of muscles showing fibers with centralized nuclei. Patient 1: ATPase at pH 9.4 showing type I (pale) and type II (dark) fibers. Patient 3: ATPase at pH 4.6 showing type 1 fibers dark and type 2 fibers less stained. Scale bars 20 μm. (ZIP 46909 kb)
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2019-10-24
