Fig. 2.

A family with the MATR3 S85C mutation. a Family tree of cases with the MATR3 S85C mutation. The detailed clinical information was previously described [67]. b Short-T1 inversion recovery MR images revealed fatty and degenerative changes in the gluteus, quadriceps, and hamstring muscles of patient 1 and the paraspinal and gluteus muscles of patient 2. c Needle electromyography demonstrated chronic denervation in the vastus lateralis muscles of patients 1 and 2. d Muscle biopsy from patients 1 and 2 showed severe fatty and myopathic changes with rimmed vacuoles. Immunohistochemical analysis demonstrated p62- or TDP-43-positive sarcoplasmic granular staining in degenerating myofibers of patient 1. The observation of chronic denervation and renervation on electromyography and muscle biopsy, split hand syndrome, and decremental motor responses to repetitive nerve stimulation (data not shown) suggest the involvement of lower motor neurons in patients 1 and 2