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Results of the clinical-pathological re-evaluation. The diseases are reported using gene symbols apart for IBM. For TTN and NEB two different phenotypes were considered. FLNC refers to the phenotype described in the distal ABD-filaminopathy. In black the disease scored as typical and in gray as consistent. A cross indicates the gene confirmed as positive. HMERF, hereditary myopathy with early respiratory failure; TMD, tibial muscular dystrophy.
