New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor () Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies.

Mutations in the skeletal muscle ryanodine receptor () gene have been linked to malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. is an intracellular calcium release channel and plays a crucial role in the sarcoplasmic reticulum and transverse tubule connection. Here, we report 2 fetuses from the same parents with compound heterozygous mutations in the gene (c.