P1.14 Overt myopathy in Ehlers–Danlos syndrome caused by tenascin-X deficiency: extending the clinical spectrum and refining the muscle pathology

Abstract

Autosomal recessive Ehlers–Danlos syndrome (EDS), caused by a deficiency of the extracellular matrix (ECM) protein tenascin-X (TNX), has been described in 11 patients. Its core features consist of hyperextensible skin, hypermobile joints and easy bruising. Muscle involvement with finger contractures was subsequently reported in only one of these cases.