Flexor-dominant myopathic phenotype in patients with His46Arg substitution in the Cu/Zn superoxide dismutase gene

Journal of the Neurological Sciences

Volumn 281, Issue 1-2, 2009, Pages 6-10

  Yamashita, Satoshi ^a   Kimura, En ^a   Yamamoto, Fumio ^a   Migita, Akie ^a   Kanda, Eisuke ^b   Mita, Shuji ^c   Teramoto, Hitoo ^d   Uchino, Makoto ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b Fujimoto Hayasuzu Hospital   (Japan)

^c NATIONAL HOSPITAL ORGANIZATION   (Japan)

^d National Hospital Organization Miyazaki Hospital   (Japan)

Author keywords

Cu Zn superoxide dismutase (SOD1); Familial amyotrophic lateral sclerosis (FALS); Flexor muscles; His46Arg (H46R); Inflammatory myopathy

Indexed keywords

ARGININE; COPPER ZINC SUPEROXIDE DISMUTASE; CORTICOSTEROID; GADOLINIUM PENTETATE; HISTIDINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DRUG WITHDRAWAL; ELECTROMYOGRAPHY; EXTENSOR MUSCLE; FEMALE; FLEXOR MUSCLE; GASTROCNEMIUS MUSCLE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; INSOMNIA; LEG MUSCLE; LYMPHOCYTIC INFILTRATION; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE DENERVATION; MUSCLE NECROSIS; MUSCLE REGENERATION; MUSCLE STRENGTH; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSIS; TENDON REFLEX;

AGED, 80 AND OVER; FAMILY; FEMALE; HUMANS; LYMPHOCYTES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE FIBERS, SKELETAL; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR ATROPHY; MUTATION, MISSENSE; NECROSIS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SUPEROXIDE DISMUTASE;

EID: 67349139244     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.03.010     Document Type: Article

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