No. | Mutation | Age | Sex | Onset | Family history | Predominantly affected muscles | Cardiac involvement | Respiratory involvement | EMG | Muscle biopsy |
---|---|---|---|---|---|---|---|---|---|---|
1 | c.5807 A > G p.X1936Trp | 62 | M | childhood (as CFTD) | yes | proximal | no | no | myopathic | hyaline bodies |
2 | c.5808 G > C p.X1936Tyr | 39 | F | adult | no | distal axial (and proximal) | no | no | myopathic | cores |
3a | c.5807 A > T p.X1936Leu | 57 | M | childhood neck weakness | no | proximal, more severe neck weakness | no | no | myopathic | hyaline bodies |