Scientific Publication 

Vocal Cord Paralysis and Rapid Progressive Motor Neuron Disease by the I113F Mutation in SOD1 Gene

Author(s): Rolfs, Prof. Arndt, MD, Gölnitz, Uta, MD, Hermann, Andreas, MD, Reuner, Ulrike, MD, Ziethe, Georg, MD, Bräuer, Andreas, Ricci, Claudia, PhD

We report a heterozygous I113F mutation in a patient with familial ALS characterized by early and predominant bilateral vocal cord paralysis. Read more!

Familial cases of amyotrophic lateral sclerosis are most frequently caused by mutation in the superoxide dismutase-1 (SOD1) gene. We report a heterozygous I113F mutation in a patient with familial ALS characterized by early and predominant bilateral vocal cord paralysis followed by descending spinal cord paresis.


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