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. 2019 May 22;10:621. doi: 10.3389/fphys.2019.00621

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Copyright © 2019 Russo, Marra, Andolfo, De Rosa, Rosato, Manna, Gambale, Raia, Unal, Barella and Iolascon.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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The pedigree of the two families (A and B). Square denote males, circle females, solid symbols affected persons. The black arrow indicates probands. (A) The pedigree of family A is shown. According to the autosomal recessive inheritance pattern, the parents of A-II.2 are heterozygous for the variant c.281A > C, p.Tyr94Ser. (B) The pedigree of family B is shown. According to the autosomal recessive inheritance pattern, consanguineous parents of B-II.1 are heterozygous for the variant c.689A > C, p.His230Pro.