Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

Figure 1

Schematic representation of the c10orf2 gene showing the locations of previously reported recessive mutations: (i) Y508C [3], (ii) A318T [4], (iii) T451I [5], (iv) R29X [6], and (v) P83S/R463W [Current paper].