FIGURES LEGENDS:
- Figure 1: Pedigree of family with familial
myoclonus-dystonia.
- Figure 2: Electropherogram showing the SGCEc.662G> T mutation (A), in father and daughter and
c.662G+99> T
- Figure 3: Conservation analysis of Gly221 residue. A:
Schematic of SGCE protein; B:Multi-Alignment of the amino acid
sequences of SGCE orthologous proteins.
- Figure 4 : Molecular modeling comparison of wild-type and
mutant SGCE protein. A: location of the mutated amino acid in the 3D
structure of the SGCE protein. B: The wildtype protein. C: The mutant
protein. Green lines represent hydrophobic interactions.