Sporadic motor neuron disease in a familial novel SOD1 mutation: Incomplete penetrance or chance association?

Amyotrophic Lateral Sclerosis

Volumn 12, Issue 3, 2011, Pages 220-222

  Conforti, Francesca L ^b   Barone, Rita ^a   Fermo, Salvatore Lo ^a   Giliberto, Claudia ^a   Patti, Francesco ^a   Gambardella, Antonio ^b   Quattrone, Aldo ^b   Zappia, Mario ^a  

^a UNIVERSITY OF CATANIA   (Italy)

^b INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

Author keywords

novel SOD1 mutation; Sporadic motor neuron disease; unaffected carriers

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; COGNITION; DISEASE COURSE; ELECTROMYOGRAM; FAMILY HISTORY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; LABORATORY TEST; MOTOR NEURON DISEASE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPORADIC AMYOTROPHIC LATERAL SCLEROSIS;

AGED, 80 AND OVER; FEMALE; HUMANS; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; PEDIGREE; PENETRANCE; SUPEROXIDE DISMUTASE;

EID: 79955770413     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2010.545951     Document Type: Article

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