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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

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Acta Neuropathologica Communications

ISSN: 2051-5960

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