Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family

Annals of Neurology

Volumn 49, Issue 2, 2001, Pages 267-271

  Hand, Collette K ^b   Mayeux Portas, Veronique ^a   Khoris, Jawad ^b   Briolotti, Valerie ^c   Clavelou, Pierre ^c   Camu, William ^d   Rouleau, Guy A ^a  

^a MONTREAL GENERAL HOSPITAL   (Canada)

^b EPI 99 30   (France)

^c GUI DE CHAULIAC HOSPITAL   (France)

^d SERVICE DE RHUMATOLOGIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; DNA;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; FRANCE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; ONSET AGE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SUPEROXIDE DISMUTASE;

EID: 0035136084     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(20010201)49:2<267::AID-ANA51>3.0.CO;2-D     Document Type: Article

References (14)

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6. Identification of six novel SOD1 gene mutations in familial amyottophic lateral sclerosis
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8. Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country
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12. Motor system abnormalities in heterozygous relatives of a D90A homozygous CuZn-SOD ALS patient of Finnish extraction
13. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
14. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients