Benign Samaritan congenital myopathy

Disease ID:142
Name:Benign Samaritan congenital myopathy
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Database Links
Orphanet: ORPHA324581

Targets

RyR1
References:  1
Mutations:  RyR1 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Benign Samaritan congenital myopathy

References

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1. Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J. (2012) Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol., 124 (4): 575-81. [PMID:22752422]