Additional Supporting Information may be found in the online version of this article.

mds25396-sup-0001-suppvideo.mpg18481KSupplementary Video
mds25396-sup-0002-suppfig1.jpg3601KSUPPLEMENTAL FIG. 1. Pedigree of the studied family comprising 4 affected individuals over 3 generations. The genotype of each studied individual for the c.2767G>A nucleotide substitution is indicated. Chromatograms are shown to illustrate the wild-type sequence (III-1) and the heterozygous sequence (III-2 and IV-1) with the c.2767G>A mutation (arrow for IV-1) that results in the p.Asp923Asn amino acid substitution (U, unknown).

Please note: Wiley Blackwell is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.