Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family

Amyotrophic Lateral Sclerosis

Volumn 8, Issue 2, 2007, Pages 73-78

  Kim, Hyun Young ^a   Ki, Chang Seok ^b   Koh, Seong Ho ^a   Park, Kee Hyung ^c   Sunwoo, Il Nam ^d   Kim, Seung H ^a  

^a Hanyang University   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Gachon University College of Medicine   (South Korea)

^d Yonsei University   (South Korea)

Author keywords

Amyotrophic lateral sclerosis; F20C; Familial ALS; Korean family; Superoxide dismutase 1 (SOD 1)

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; CYSTEINE; DNA; PHENYLALANINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARM MUSCLE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CARRIER; DISEASE COURSE; DISEASE TRANSMISSION; DNA DETERMINATION; EXON; FAMILIAL DISEASE; FAMILY HISTORY; FASCICULATION; FEMALE; GENE IDENTIFICATION; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; KOREA; LEG MUSCLE; MALE; MUSCLE TWITCH; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEUROMUSCULAR TRANSMISSION; ONSET AGE; PEDIGREE ANALYSIS; PENETRANCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RATING SCALE; SEX DIFFERENCE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KOREA; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SUPEROXIDE DISMUTASE;

EID: 34247222180     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.1080/17482960701223154     Document Type: Article

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