Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.
Mahmoud Reza AshrafiAli Zare DehnaviAli Reza TavasoliMorteza HeidariMasoud Ghahvechi AkbariAli Reza RonaghMohammad GhafouriNejat MahdiehPouria MohammadiMohammad Farid MohammadiPublished in: Molecular genetics & genomic medicine (2023)
One homozygous nonsense variant and one homozygous missense variant in the GAN 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.