Additional nonsynonymous variants were enriched in the Caucasian MMD population but did not reach exome-wide significance (P < 10−4), and included rs143744326 (RPTN, p.D110H), rs35366573 (CD46, p.A290V), rs6195 (NR3C1, p.N337S), and rs11670727 (NAPSA, p.A310T) (Table 2). Here, RPTN is linked to multiminicore myopathy.