High Variability of Fabry Disease Manifestations in an Extended Italian Family

Figure 2

Mutation p.M51I: (a) HRM analysis of exon 1 of the GLA gene in male patients (curves indicated by the dashed arrow) and in a healthy control (curves indicated by the solid arrow); (b) portion of the electropherogram of exon 1 of the GLA gene in male patients in which p.M51I mutation is indicated by the arrow; (c) portion of the sequence of exon 1 of the GLA gene in male patients aligned with the corresponding sequence of a healthy control (wt).

(a)

(b)

(c)