Fig. 2: Families pedigree and human MYMX structure. | European Journal of Human Genetics

Fig. 2: Families pedigree and human MYMX structure.

From: Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

Fig. 2

A Patient 1 pedigree and Sanger sequencing electropherograms displaying segregation of the MYMX (NM_001315494.2) c.107 T > A (p.Leu36Ter) variant. Key: II-2: proband; I-1: father; I-2: mother; II-1: healthy sister. B Family 2 pedigree and Sanger sequencing electropherograms displaying the MYMX (NM_001315494.2) c.255 A > G p.(Ter85TrpextTer41) variant. C Gene structure of human MYMX (NM_001315494.2): Boxes represent exons; white boxes denote untranslated regions, and black box indicates open reading frame. MYMX variant from previously reported patients is shown in the upper part, and MYMX variants identified in our patients are shown in the lower part.

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