Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy

Figure 2

(a) Alignment of the c.1192C>T (p.Arg398) mutation across species, illustrating a conserved region. (b) Indication of both c.1192C>T (p.Arg398) and c.3014C>T (p.Pro1005Leu) mutations and their position in relation to functional domains of the gene.

(a)

(b)