Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation

Amyotrophic Lateral Sclerosis

Volumn 13, Issue 5, 2012, Pages 479-486

  Nakamura, Akinori ^a   Hineno, Akiyo ^a   Yoshida, Kunihiro ^b   Sekijima, Yoshiki ^a   Hanaoka Tachibana, Naoko ^c   Takei, Yo Ichi ^d   Ohara, Shinji ^d   Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Department of Brain Disease Research ^*  (Japan)

^c Okaya City Hospital   (Japan)

^d National Hospital Organization Matsumoto Medical Center Matsumoto Hospital   (Japan)

Author keywords

Copper zinc superoxide dismutase (SOD1); Familial amyotrophic lateral sclerosis; Gene analysis; Slow progression; Spinal muscular atrophy

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; DISEASE DURATION; FEMALE; GENE MUTATION; HUMAN; JAPANESE; LEG CRAMP; LIMB WEAKNESS; MALE; MEDICAL RECORD REVIEW; ONSET AGE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 84865322450     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2012.656311     Document Type: Article

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