Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: A clinicopathologic study

Journal of the Neurological Sciences

Volumn 260, Issue 1-2, 2007, Pages 236-239

  Motozaki, Yuko ^a   Sugiyama, Yu ^b   Ishida, Chiho ^a   Komai, Kiyonobu ^a   Matsubara, Shiro ^c   Yamada, Masahito ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b Kanazawa Municipal Hospital   (Japan)

^c TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

Author keywords

Carpal tunnel syndrome; Familial amyloid polyneuropathy; Mutation; Transthyretin; Vitreous opacity

Indexed keywords

AMYLOID; ARGININE; LEUCINE; PREALBUMIN;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTONOMIC NEUROPATHY; AUTOPSY; CARPAL TUNNEL SYNDROME; CASE REPORT; CLINICAL FEATURE; FAMILIAL AMYLOID POLYNEUROPATHY; FAMILY HISTORY; FEMALE; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY; SEQUENCE ANALYSIS; SYMPTOM; VITREOUS OPACITY;

ADULT; AMYLOID NEUROPATHIES, FAMILIAL; BRAIN; CARPAL TUNNEL SYNDROME; DNA MUTATIONAL ANALYSIS; EYE DISEASES, HEREDITARY; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MENINGES; MIDDLE AGED; MUTATION; MYOCARDIUM; PEDIGREE; PERIPHERAL NERVES; PHENOTYPE; PREALBUMIN; VISCERA; VITREOUS BODY;

EID: 34547650586     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.03.021     Document Type: Article

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