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. Author manuscript; available in PMC: 2014 Dec 1.
Published in final edited form as: J Mol Med (Berl). 2013 Aug 20;91(12):10.1007/s00109-013-1075-4. doi: 10.1007/s00109-013-1075-4

Figure 1.

Figure 1

A) Pedigree structure of the Spanish family featuring a complex form of FCMTE. Both disease-segregating mutations are shown. B) Sequence chromatograms showing the ACMSD wild-type mutation sequence at the bottom and the heterozygous ACMSD mutant sequence at the top (Blue arrow). C) ACMSD p.W26X mutation conservation across different species is represented. HS: homo sapiens; BT: Bos Taurus; CL: Canis Lupus; MM: Mus musculus; PT: Pan troglodytes, RN: Rattus Norvegicus. D) Brain MRI of patient II-3. Left: Coronal Inversion Recovery (IR): hypointense linear signals (arrows) in the corticospinal pathways. Right: Transversal T2 weighted image showing a high-intensity signals in the brainstem (arrow). Mild vermian cerebellar atrophy is shown.