Figure 9.

Two patients diagnosed with congenital myasthenia carry alleles with missense variants in MACF1. (A) Two missense variants of MACF1 were identified in the Serbian patient diagnosed with CM. The first variant is found in a small exon encoding part of the Plakin domain (Chr1: 39802863 c.5395A>G; p.Thr1799Ala), and the second variant is found in an exon encoding the first Spectrin repeat (Chr1: 39818781 c.6622C>T; p.Leu2208Phe; indicated in red). These domains are interposed between the calponin-homology (CH) domain and the Gas2-related (GAR) domain. The Indian patient is homozygous for a MACF1 variant in a large exon encoding the bulk of the Plakin domain (Chr1: 39801627 c.4687G>A; p.Val1563Met; indicated in blue). (B) Each parent carried one variant and transmitted this MACF1 variant to the patient; none of the unaffected siblings carried both MACF1 variants. In red: Samples submitted to whole exome sequencing. (C) Clinical examination identified the indicated symptoms.