Article
Core myopathies.
Seminars in pediatric neurology - 1 Dec 2011
Jungbluth Heinz, Sewry Caroline A, Muntoni Francesco
Abstract excerpt
The core myopathies, Central Core Disease and Multiminicore Disease, are heterogeneous congenital myopathies with the common defining histopathological feature of focally reduced oxidative enzyme activity (central cores, multiminicores). Mutations in the gene encoding for the skeletal muscle ryanodine (RyR1) receptor are the most common cause. Mutations in the selenoprotein N (SEPN1) gene cause a less common...
Topics
- Diagnosis, Differential
- Humans
- Mallory Bodies
- Muscle, Skeletal
- Muscular Dystrophies
- Mutation
- Myopathy, Central Core
- Ryanodine Receptor Calcium Release Channel
- Scoliosis