PMID- 10430435
OWN - NLM
STAT- MEDLINE
DCOM- 19990921
LR  - 20190514
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 53
IP  - 2
DP  - 1999 Jul 22
TI  - A SOD1 gene mutation in a patient with slowly progressing familial ALS.
PG  - 404-6
AB  - We report a new missense mutation (Gly12Arg) [corrected] in exon 1 of the Cu/Zn
      superoxide dismutase (SOD1) gene in a 67-year-old patient with familial ALS
      (FALS). The clinical course showed an unusually slow progression. The enzymatic
      activity of the mutated SOD1 was 80% of normal. At the molecular level, the
      Gly12Arg [corrected] mutation occurs in a region outside the active site and may 
      lead to local distortion strain in the protein structure.
FAU - Penco, S
AU  - Penco S
AD  - Department of Oncology, University of Genova, Italy.
FAU - Schenone, A
AU  - Schenone A
FAU - Bordo, D
AU  - Bordo D
FAU - Bolognesi, M
AU  - Bolognesi M
FAU - Abbruzzese, M
AU  - Abbruzzese M
FAU - Bugiani, O
AU  - Bugiani O
FAU - Ajmar, F
AU  - Ajmar F
FAU - Garre, C
AU  - Garre C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (SOD1 protein, human)
RN  - EC 1.15.1.1 (Superoxide Dismutase)
RN  - EC 1.15.1.1 (Superoxide Dismutase-1)
SB  - IM
EIN - Neurology 2001 Sep 25;57(6):1146
MH  - Amyotrophic Lateral Sclerosis/*genetics/physiopathology
MH  - Exons
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation/genetics
MH  - Pedigree
MH  - Superoxide Dismutase/*genetics
MH  - Superoxide Dismutase-1
MH  - Time Factors
EDAT- 1999/08/03 00:00
MHDA- 1999/08/03 00:01
CRDT- 1999/08/03 00:00
PHST- 1999/08/03 00:00 [pubmed]
PHST- 1999/08/03 00:01 [medline]
PHST- 1999/08/03 00:00 [entrez]
AID - 10.1212/wnl.53.2.404 [doi]
PST - ppublish
SO  - Neurology. 1999 Jul 22;53(2):404-6. doi: 10.1212/wnl.53.2.404.