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

Abstract excerpt

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 > 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...

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• Amyotrophic Lateral Sclerosis
• China
• Dynactin Complex
• Mutation
• Siblings