TNPO3 and congenital contractural arachnodactyly: However, this individual case differs in some specific indicators of LGMDD2 (such as dysphagia, arachnodactyly, and dysarthria), and was associated with the heterozygous c.G2453A (R818P) mutation in exon 20 of TNPO3 (rs587777431) (Gibertini et al., 2018).