Several rare RNF213 variants distinct from p.R4810K and p.R4859K have been reported in Caucasian MMD patients with no further evidence of association in large patient cohorts [54, 65, 129, 131–134], such as p.D4013N, p.R4019C, p.E4042K, p.V4146A, and p.W4677L in Slovakian and Czech MMD patients [135]. The gene discussed is RNF213; the disease is multiminicore myopathy.