An AOA2 patient with a novel compound heterozygous SETX frame shift mutations

J Neurol Sci. 2017 Jan 15:372:294-296. doi: 10.1016/j.jns.2016.11.074. Epub 2016 Nov 30.

¹ Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikatacho, Okayama 700-8558, Japan.
² Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
³ Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikatacho, Okayama 700-8558, Japan. Electronic address: pvq50q2x@okayama-u.ac.jp.

No abstract available

Keywords: AOA2; Compound heterozygote; Frame shift mutation; SETX.

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