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. 2017 Apr 11;4(5):347–350. doi: 10.1002/acn3.404

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© 2017 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.

This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Pedigree and REEP2 mutation. (A) Family pedigree. The index patient (II.1; black‐filled square) carries a de novo p.Met40Arg missense mutation in REEP2. (B) Conservation of the mutated REEP2 residue across species (top) and human REEP1‐4 proteins (bottom). The single letter amino acid code is shown. A portion of the putative hydrophobic hairpin domain is surrounded in green. The novel missense mutation described here as well as the previously reported p.Val36Glu SPG72 mutation are indicated at the top.