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Mutations in the  DCTN1  gene have been found in patients with various neurodegenerative diseases, and the spectrum is still expanding. Here, we report a mutation in  DCTN1  (c.175G &gt; C, p.G59R) identified in two patients, who manifested dHMN and ALS, respectively, in an affected family. The clinical manifestations and eightyear follow-up suggested that this mutation is pathogenic. The phenomena observed in this family with the same  DCTN1  mutation illustrate the clinical heterogeneity of  DCTN1  gene mutations and expand our understanding of their genotype-phenotype relationships. Further research and functional experiments, especially mutation at amino acid position 59 of  DCTN1 , are required.

An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report