Identification of m.3243A & gt;G mitochondrial DNA mutation in patients with cerebellar ataxia

CONCLUSION: Mitochondrial m.3243A>G mutation accounted for 0.9% (2/232) of genetically-undetermined cerebellar ataxia in the Han Chinese cohort in Taiwan. These findings highlight the importance of investigating m.3243A>G in patients with genetically-undetermined cerebellar ataxia.PMID:37311680 | DOI:10.1016/j.jfma.2023.05.031

Source: J Formos Med Assoc - June 13, 2023 Category: General Medicine Authors: Nai-Yi Liao Kuan-Lin Lai Yi-Chu Liao Cheng-Tsung Hsiao Yi-Chung Lee Source Type: research