Linsley et al., 2017 - Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. Proceedings of the National Academy of Sciences of the United States of America   114(2):E228-E236 Full text @ Proc. Natl. Acad. Sci. USA
7 Genes / Markers
Marker Type Symbol Name
Gene actc1b actin alpha cardiac muscle 1b
Gene cacna1sa calcium channel, voltage-dependent, L type, alpha 1S subunit, a
Gene cacna1sb calcium channel, voltage-dependent, L type, alpha 1S subunit, b
Gene cacnb1 calcium channel, voltage-dependent, beta 1 subunit
Gene ryr1a ryanodine receptor 1a (skeletal)
Gene ryr1b ryanodine receptor 1b (skeletal)
Gene stac3 SH3 and cysteine rich domain 3