Oct, 2012
Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis
AMYOTROPHIC LATERAL SCLEROSIS
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- 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
- ID information
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- DOI : 10.3109/17482968.2012.686512
- ISSN : 1748-2968
- Web of Science ID : WOS:000308423800015