An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
Hum Mol Genet. 2000 Nov 1;9(18):2599-608. doi: 10.1093/hmg/9.18.2599.
Hum Mol Genet. 2000.
PMID: 11063719