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Table 3 Rare RYR1 variants detected in families with FADS/LMPS phenotypes

From: Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Family ID DNA change Protein change Genotype Segregation in family?
MPS001 c.6721C > T p.Arg2241STOP Homozygous Yes
MPS002 c.2097_2123del p.(Glu699_Gly707del) Homozygous Yes
MPS003 c.7043delGAG p.(Glu2347del)) Homozygous Yes