MUSK and arthrogryposis: Further examination of rare variants in WES data that could be associated with the clinical features of the phenotype of the patient, such as the arthrogryposis and the multiple pterygium, did not reveal any variant in the acetylcholine receptor subunits (CHRNG, CHRND, CHRNA1) and other genes such as MUSK, DOK7, RAPSN, and MYH3. However, we found a homozygous variation in the TPM2 gene that is located in exon 6 NM_001301226: c.628C>T: p.Gln210*.