https://www.selleckchem.com/pr....oducts/mitosox-red.h
Objective To explore the genetic basis for a patient with episodic ataxia and pyramidal tract signs. Methods The patient was subjected to high-throughput sequencing, Sanger sequencing and analysis of dynamic variant site associated with spinocerebellar ataxias (SCA). Results The patient was an adolescent male presenting with episodic ataxia, bilateral knee hyper-reflexia and ankle clonus. By genetic testing, he was found to harbor a c.1159-1162dupAAGT variant of PDHA1 gene. The same variant was not found in his parents and elder sis
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