Figure 1
From: A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
Pedigree, biopsy and molecular biology studies. a) Pedigree of the family. The index patient is individual III.3. b) Tolouidine blue-stained semi-thin section of a sural nerve biopsy from the index patient. Shown are several small clusters of axons as an indication of axonal regeneration (red arrows) and one axon undergoing acute Wallerian degeneration (black arrow). The overall number of axons is slightly reduced. c) RT-PCR amplification of LRSAM1 mRNA from blood of the index patient (lane 1) and a healthy control patient (lane 2). d) Sanger sequencing of the PCR product from c. Shown is a sequence alignment of the wild type sequence (top) and the sequence obtained from the larger size PCR product in the index patient (bottom and chromatogram). e) LRSAM1 domain structure and sites of disease causing mutations. LRR - leucine rich repeat domain; ERM - ezrin-radixin-moezin domain; CC - coiled coil region; SAM - sterile alpha motif domain; PTAB - PTAB motif domain; RING - RING finger domain. Positions are indicated by amino acid number. The recessive mutation from Guernsey et al. is highlighted blue, dominant mutations are highlighted red, the mutation reported herein is in bold and dark red.