Article
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.
Molecular genetics and metabolism - 1 Jan 2000
Guglielmi Valeria, Vattemi Gaetano, Gualandi Francesca, Voermans Nicol C, Marini Matteo, Scotton Chiara, Pegoraro Elena, Oosterhof Arie, Kósa Magdolna, Zádor Ernő, Valente Enza Maria, De Grandis Domenico, Neri Marcella, Codemo Valentina, Novelli Antonio, van Kuppevelt Toin H, Dallapiccola Bruno, van Engelen Baziel G, Ferlini Alessandra, Tomelleri Giuliano
Abstract excerpt
Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), from patients without mutations, Brody syndrome (BS). We performed a detailed study of SERCA1...
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