RYR1
| Deellabo: | PGD DNA |
| Gen (Gen Code): | RYR1 |
| Aliases Gen: | CCO, MHS, MHS1, RYDR, RYR, RYR-1, SKRR |
| Gen ID (NCBI): | 6261 |
| OMIM Gen ID: | 180901 |
| Chromosomale locatie: | 19q13.1 |
| Genetische aandoening / Analyse: | Central core disease van de spier |
| OMIM aandoening ID: | 117000 |
| Overerving: | AD |
| Aliases aandoening: | CENTRAL CORE DISEASE OF MUSCLE CCD CCO MINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED; CNMDU1, INCLUDED |