An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: Case report of an affected family member

Acta Myologica

Volumn 32, Issue 1, 2013, Pages 23-26

  Trojsi, Francesca ^a   Piccirillo, Giovanni ^a   Femiano, Cinzia ^a   Damiano, Raffaele ^a   Monsurro, Maria Rosaria ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Familial ALS (FALS); Mutation; Superoxide dismutase 1 (SOD1)

Indexed keywords

RILUZOLE; COPPER ZINC SUPEROXIDE DISMUTASE; DNA; SUPEROXIDE DISMUTASE;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; COPPER ZINC SUPEROXIDE DISMUTASE GENE; EL ESCORIAL CRITERIA; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FAMILIAL DISEASE; FEMALE; GAIT DISORDER; GENE; GENE MUTATION; HUMAN; ITALY; LIMB; MEDICAL HISTORY; MIDDLE AGED; NAMED INVENTORIES, QUESTIONNAIRES AND RATING SCALES; PEDIGREE; PHENOTYPE; PHYSIOTHERAPY; SPINE DISEASE; WEAKNESS; EXON; FAMILY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; FAMILIAL ALS (FALS); SUPEROXIDE DISMUTASE 1 (SOD1);

AMYOTROPHIC LATERAL SCLEROSIS; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MIDDLE AGED; MUTATION; PEDIGREE; SUPEROXIDE DISMUTASE;

FAMILIAL ALS (FALS); MUTATION; SUPEROXIDE DISMUTASE 1 (SOD1);

EID: 84891928131     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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