RSMD1Rigid Spine Muscular Dystrophy 1
Copyright 1988-2018, All rights reserved.
References in periodicals archive ?
Further study assigned the locus for rigid spine muscular dystrophy 1 (RSMD1) to chromosome 1p35-36 and found evidence of linkage disequilibrium associated with the SEPN1 gene.[39] SEPN1 gene encodes a selenoprotein N which is a glycoprotein localized within the endoplasmic reticulum.[40] Selenoprotein N may play a key role in the physiology of skeletal muscles such as the diaphragm by maintaining the redox homeostasis and protection against oxidative stress.[41]
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).
Supporting our findings, both “sandwich” and “target” signs are very rare in other neuromuscular disorders in the literatures, such as Duchenne muscular dystrophy,[sup][10],[22] lipid metabolic myopathy,[sup][23] inflammatory myopathy,[sup][8] LGMD2A,[sup][24] Emery-Dreifuss muscular dystrophy,[sup][25],[26],[27] and congenital muscular dystrophy with rigid spine syndrome (RSMD1).[sup][17],[28]