DISEASE: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Entry
H02791 Disease
Name
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Description
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.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C72 Congenital myopathies
H02791 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
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
Title
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.
