A novel SOD1 gene mutation in familial ALS with low penetrance in females

T. Murakami, H. Warita, T. Hayashi, K. Sato, Y. Manabe, S. Mizuno, K. Yamane, K. Abe

研究成果査読

23 被引用数 (Scopus)

抄録

We identified a novel missense mutation in the Cu/Zn superoxide dismutase gene in a family with amyotrophic lateral sclerosis (ALS). The mutation was a transition of T to C, resulting in a substitution of leucine 126 to serine in exon 5. The family had very unique clinical features of extremely mild severity only in the legs of two male patients with onset of 42 and 52 years old, and their mothers did not develop any symptom even after reaching the age of 80 and carrying the same mutation. The present study suggests that there are other factors that delay or prevent the disease.

本文言語English
ページ(範囲)45-47
ページ数3
ジャーナルJournal of the neurological sciences
189
1-2
DOI
出版ステータスPublished - 8月 15 2001
外部発表はい

ASJC Scopus subject areas

  • 神経学
  • 臨床神経学

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