Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene.
Vladimiro
V
Pietrini
Adriana
A
Marbini
Lucia
L
Galli
Vincenzo
V
Sorrentino
D001120:Arginine / Q000235:genetics; D003402:Creatine Kinase / Q000378:metabolism; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D004576:Electromyography; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000378:metabolism
D019837:Ryanodine Receptor Calcium Release Channel; D001120:Arginine; D013385:Succinate Dehydrogenase; D003402:Creatine Kinase; D003545:Cysteine