Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome
Guglielmi, V.; Voermans, N.C.; Oosterhof, A.; Nowis, D.; van Engelen, B.G.; Tomelleri, G.; Vattemi, G.
Neuropathology and Applied Neurobiology 44(5): 533-536
2018
ISSN/ISBN: 1365-2990 PMID: 28801956 Document Number: 207547
Brody disease (BD, OMIM #601003) is an inherited skeletal muscle disease clinically characterized by exercise-induced impairment of muscle relaxation and stiffness due to the delay in the Ca2+ re-uptake in the sarcoplasmic reticulum (SR)[1, 2]. The delayed muscle relaxation mainly affects legs, harms, hands and eyelids and usually improves after a few minutes rest [1-3]. Patients frequently report myalgia, painless or mildly painful cramps whereas recurrent rhabdomyolysis have been described in a few cases [2, 3]. A reduction in sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA) activity characterizes the skeletal muscle of these patients [2-5].