Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene

Neuromuscular Disorders

Volumn 22, Issue 6, 2012, Pages 511-521

  Østern, Rune ^a,b   Fagerheim, Toril ^b   Ørstavik, Kristin ^c   Holmøy, Trygve ^d   Heiberg, Arvid ^c   Lund Petersen, Inger ^c   Strom, Tim M ^e   Nilssen, Øivind ^a,b   Dahl, Arve ^c  

^a UNIVERSITY OF TROMSØ   (Norway)

^b UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d AKERSHUS UNIVERSITY HOSPITAL   (Norway)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

ALS; H46R; HMN; P.His47Arg; SOD1

Indexed keywords

ARGININE; COPPER ZINC SUPEROXIDE DISMUTASE; HISTIDINE;

ADULT; AGE DISTRIBUTION; AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BULBAR PARALYSIS; CHGB GENE; CLINICAL ARTICLE; DISEASE DURATION; ELECTROMYOGRAPHY; ETHNIC GROUP; FAMILY STUDY; FASCICULATION; FEMALE; GENE; GENE SEQUENCE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LINKAGE ANALYSIS; MALE; MARKER GENE; MOTOR NEURON DISEASE; MUTATIONAL ANALYSIS; MYALGIA; NORWEGIAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGNOSIS; SUPEROXIDE DISMUTASE 1 GENE; SURVIVAL RATE;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; ALLELES; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; NEURAL CONDUCTION; NORWAY; PEDIGREE; PHENOTYPE; SUPEROXIDE DISMUTASE;

EID: 84860584276     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.01.011     Document Type: Article

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