EP.133Biallelic mutations in Tenascin X, TNXB cause slowly progressive asymmetric myopathy with mild joint dislocations and connective tissue alterations

We describe a 46-year-old woman born to non-consanguineous healthy French parents, who reported slowly progressive lower limbs weakness since 28 years. She had difficulties in squatting, getting up from a chair, and, from 35 years, climbing stairs. She also reported myalgias, peripheral vascular disease in hands, joint hypermobility, multiples sprains, dislocation of the 5th finger, conjunctival hemorrhages, and colon perforation during a colonoscopy.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: M. Brisset, C. Metay, N. Romero, R. Carlier, C. Badosa, C. Marques, C. Jimenez-Mallebrera, P. Laforet, E. Malfatti Source Type: research