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. 2010 Jan 28;133(2):591–598. doi: 10.1093/brain/awp325

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© The Author(s) 2010. Published by Oxford University Press on behalf of Brain.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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(A) Family RM 257. Black symbols designate affected individuals and carriers of SPG11 mutation. White symbols symbolize unaffected subjects. Circles indicate females and squares represent males. The proband is designated with an arrow. The numbers are an internal reference for each subject. Asterisks indicate sampled individuals. (B) Electropherogram of exon/intron 30 of the SPG11 gene. The new homozygous substitution (G > A) is clearly defined in the affected individuals (Subjects 2539, 2561 and 2562) as well as the heterozygous status in the parents (Subjects 2532 and 2534) and in a sibling (Subject 2537). (C) Restriction digestion assay in the family members. Heterozygous individuals showed two bands at 600 and 500 base pairs, wild-type samples showed one band at 500 base pairs and the homozygous affected individuals remain uncleaved after digestion with EcoP15I.