Mutations in the TPM2 gene are generally associated with autosomal dominant diseases, such as distal arthrogryposis (DA) [41], cap myopathy disease [42], nemaline myopathy 4 (NEM4) [43], and congenital fiber-type disproportion (CFTD) [44], and rarely associated with Escobar syndrome with autosomal recessive transmission mode. Here, TPM2 is linked to autosomal recessive multiple pterygium syndrome.