A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis

Journal of the Neurological Sciences

Volumn 306, Issue 1-2, 2011, Pages 157-159

  Baek, Wonki ^a   Koh, Seong Ho ^a   Park, Jin Seok ^a   Kim, Young Seo ^a   Kim, Hyun Young ^a   Kwon, Min Jung ^b   Ki, Chang Seok ^b   Kim, Seung Hyun ^a  

^a Hanyang University College of Medicine   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

A4F; Codon4; Familial ALS; Novel mutation; SOD1; Upper motor neuron signs

Indexed keywords

ALANINE; COPPER ZINC SUPEROXIDE DISMUTASE; PHENYLALANINE;

ADULT; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ANKLE; ASSISTED VENTILATION; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CERVICAL SPINE; CODON; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE SEVERITY; DYSPHONIA; DYSPNEA; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; EVOKED MUSCLE RESPONSE; EXON; FAMILY HISTORY; FASCICULATION; FEMALE; GAIT DISORDER; HETEROZYGOTE; HUMAN; HYPERREFLEXIA; HYPOREFLEXIA; KNEE; LIMB WEAKNESS; LUMBOSACRAL SPINE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SURVIVAL; THENAR; THORACIC SPINE;

ALANINE; AMYOTROPHIC LATERAL SCLEROSIS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENYLALANINE; SUPEROXIDE DISMUTASE;

EID: 79958771485     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.03.041     Document Type: Conference Paper

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