Article
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.
Neuromuscular disorders : NMD - 1 Nov 2012
Voermans N C, Laan A E, Oosterhof A, van Kuppevelt T H, Drost G, Lammens M, Kamsteeg E J, Scotton C, Gualandi F, Guglielmi V, van den Heuvel L, Vattemi G, van Engelen B G
Abstract excerpt
Brody disease is a rare inherited myopathy due to reduced sarcoplasmic reticulum Ca(2+) ATPase (SERCA)1 activity caused by mutations in ATP2A1, which causes delayed muscle relaxation and silent cramps. So far the disease has mostly been diagnosed by measurement of SERCA1 activity. Since mutation analysis became more widely available, it has appeared that not all patients with reduced SERCA1 activity indeed have...
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