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. 2023 Aug 28;13:14054. doi: 10.1038/s41598-023-41008-5

Figure 1.

Figure 1

Genetic and electrophysiologic features of recessive LRP4 mutation. (A) The family pedigree from the consanguineous family at first degree revealed that the proband (in black) is affected. (B) Image of the patient’s congenital agenesis of the hands and feet. (C) Decrement at RNS (3 Hz) was observed from 25 to 28% in spinal accessory nerves. (D) Position of the identified mutation on the structure of human LRP4 protein. Missense mutation identified in the β1 propeller domain in this study is indicated in red (Y607C), whereas mutations described in CMS are indicated in green. Mutations described in Cenani Lenz syndrome are represented in black and mutations described in sclerosteosis 2 are represented in blue. For A and B figures were drawn by using BioRender.com.