Figure 2.

MuSK domains structure and conservation. (a) Schematic representation of MuSK drawn to linear scale and location of variants found in the patient (bold) and mutations previously reported in the literature (black). MuSK (NP_005583.1) is composed of three IgG‐like domains, a FzD, a short transmembrane domain (TMD), a JMR, a KD, and a short C‐terminal tail. (b) Protein alignments were performed using the ClustalW2 multiple sequence alignment program (http://www.ebi.ac.uk/Tools/msa/clustalw2/). (c) Segregation analysis of MUSK variants in the family. Pedigree symbols are shaded according to the presence of clinical symptoms. FzD, frizzled domain; IgG, immunoglobulin G; JMR, juxtamembrane region; KD, kinase domain; MuSK, muscle‐specific receptor tyrosine kinase