Papers

Peer-reviewed
Oct, 2012

Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis

AMYOTROPHIC LATERAL SCLEROSIS
  • Junpei Kobayashi
  • ,
  • Masatoshi Kuroda
  • ,
  • Akihiro Kawata
  • ,
  • Yoko Mochizuki
  • ,
  • Toshio Mizutani
  • ,
  • Takashi Komori
  • ,
  • Takeshi Ikeuchi
  • ,
  • Reiji Koide

Volume
13
Number
6
First page
570
Last page
572
Language
English
Publishing type
Research paper (scientific journal)
DOI
10.3109/17482968.2012.686512
Publisher
INFORMA HEALTHCARE

We report a novel missense mutation (G37V) in exon 2 of the superoxide dismutase-1 gene in a 63-years-old Japanese male with purely lower motor neuron disease. His disease duration was 14 months, and he died of respiratory failure. The disease in this patient with the G37V mutation showed a rapid progression, although patients with G37R mutation are known to have a long survival.

Link information
DOI
https://doi.org/10.3109/17482968.2012.686512
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000308423800015&DestApp=WOS_CPL
ID information
  • DOI : 10.3109/17482968.2012.686512
  • ISSN : 1748-2968
  • Web of Science ID : WOS:000308423800015

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