Thiago Mazzo Peluzzo, Luciana Cardoso Bonadia, Amanda Donatti, Miriam Coelho Molck, Laura Bannach Jardim, Wilson Marques Jr, Iscia Teresinha Lopes-Cendes, Marcondes C. França Jr. Cerebellum (2019). doi:10.1007/s12311-019-01055-z
There were 143 unrelated patients (128 families), five of which had a single expanded allele. We identified point mutations in three out of these five (3/128 = 2.34%). Two patients had the c.157delC variant, whereas one individual had the novel variant c.482+1G>T. These results indicate that FXN point mutations are rare, but exist in Brazilian patients with FRDA. This has obvious implications for diagnostic testing and genetic counseling.
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