Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

ConclusionsOne homozygous nonsense variant and one homozygous missense variant in theGAN gene were discovered for the first time in two unrelated Iranian families that expand the mutation spectrum of GAN. Imaging findings are nonspecific, but the electrophysiological study in addition to history is helpful to achieve the diagnosis. The molecular test confirms the diagnosis.

Source: Molecular Genetics & Genomic Medicine - March 3, 2023 Category: Genetics & Stem Cells Authors: Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi  Akbari, Ali Reza Ronagh, Mohammad Ghafouri, Nejat Mahdieh, Pouria Mohammadi, Zahra Rezaei Tags: ORIGINAL ARTICLE Source Type: research