Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis (MMCKR) is a rare autosomal recessive myopathy with elevated creatine kinase level. It has been reported that mutations in MLIP cause this disease. MLIP encodes the muscular lamin A/C-interacting protein.
Salzer-Sheelo L, Fellner A, Orenstein N, Bazak L, Lev-El Halabi N, Daue M, Smirin-Yosef P, Van Hout CV, Fellig Y, Ruhrman-Shahar N, Staples J, Magal N, Shuldiner AR, Mitchell BD, Nevo Y, Pollin TI, Gonzaga-Jauregui C, Basel-Salmon L
タイトル
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.
