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Figure 1 | Acta Neuropathologica Communications

Figure 1

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

Figure 1

A: Mapping of a consanguineous family (MPS001) with lethal multiple pterygium syndrome to RYR1 . The three affected foetuses shared a common homozygous region between 28,725,890 - 44,669,155 on chromosome 19. B: Chromatograms showing nonsense mutation (C.6721C > T; p.Arg2242*) at exon 42 in two affected foetuses (F1 and F2) and (in heterozygous state) in the parents (Mo and Fa).

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