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Molecular and Biochemical Diagnosis (MBD)
Despite the genetic heterogeneity in familial ALS (FALS), SOD1 gene mutations are the most frequent cause of FALS, accounting for around 20% of familial cases and sporadic cases. Mutant forms of SOD1 exhibit toxicity that promotes the death of motor neurons. In case of FALS protein aggregates are produced in the motor neurons in patients, which is probably associated to mitochondria. Methods: In this study, we cloned the SOD1 gene, using reverse transcription Polymerase Chain Reaction (RT-PCR)fatcat:ojezntv2gje5pktlq5i6xp3nye