A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease

Human Mutation

Volumn 9, Issue 1, 1997, Pages 69-71

  Watanabe, M ^a,b   Aoki, M ^a   Abe, K ^a   Shoji, M ^b   Iizuka, T ^b   Ikeda, Y ^b   Hirai, S ^b   Kurokawa, K ^c   Kato, T ^c   Sasaki, H ^c   Itoyama, Y ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b GUNMA UNIVERSITY   (Japan)

^c YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MOTOR NEURON DISEASE; MUSCLE WEAKNESS; PEDIGREE ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

AGED; FEMALE; HUMANS; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; PEDIGREE; POINT MUTATION; SUPEROXIDE DISMUTASE;

EID: 16944364061     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:1<69::AID-HUMU14>3.0.CO;2-N     Document Type: Article

References (6)

1. Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y, Abe K (1993) Mild ALS in Japan associated with novel SOD mutation. Nature Genet 5:323-324; Erratum Nature Genet (1994) 6:225.
2. Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y, Abe K (1994) Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: A possible new subtype of familial ALS. J Neurol Sci 126:77-83.
3. Côté F, Collard J-F, Julien J-P (1993) Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: A mouse model of amyotrophic lateral sclerosis. Cell 73:35-46.
4. Deng H-X, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung W-H, Getzoff ED, Hu P, Herzfeldt B, Roos RP, Warner C, Deng G, Soriano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericak-Vance MA, Siddique T (1993) Amyotrophic lateral sclerosis and structural defects in Cu,Zn Superoxide dismutase. Science 261:1047-1051.
5. Elshafey A, Lanyon WG, Connor JM (1994) Identification of a new missense point mutation in exon 4 of the Cu/Zn Superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis. Hum Mol Genet 3:363-364.
6. Esteban J, Rosen DR, Bowling AC, Sapp P, McKenna-Yasek D, O'Regan JP, Beal MF, Horvitz HR, Brown RH Jr (1994) Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn Superoxide dismutase in patients with amyotrophic lateral sclerosis. Hum Mol Genet 3:997-998.