Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease

Acta Neurologica Scandinavica

Volumn 107, Issue 1, 2003, Pages 31-37

  Takashima, H ^a   Nakagawa, Masanori ^a   Umehara, F ^a   Hirata, K ^a   Suehara, M ^b   Mayumi, H ^b   Yoshishige, K ^a   Matsuyama, W ^a   Saito, M ^a   Jonosono, M ^a   Arimura, K ^a   Osame, M ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b National Hospital Organization Okinawa National Hospital   (Japan)

Author keywords

CMTX; CNS symptoms; GJB1; Hearing loss; Onion bulb

Indexed keywords

ARGININE; GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN BETA1; GLYCINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; GAP JUNCTION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GJB1 GENE; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTELLIGENCE; MALE; MUSCLE WEAKNESS; PATHOLOGICAL ANATOMY; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PHENOTYPE; PROTEIN EXPRESSION; RISK FACTOR; SACCADIC EYE MOVEMENT; SENSORY DYSFUNCTION; SYMPTOMATOLOGY; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FOLLOW-UP STUDIES; GENES, DOMINANT; HUMANS; INTELLIGENCE; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUTATION; MUTATION, MISSENSE; NEUROLOGIC EXAMINATION; OCULAR MOTILITY DISORDERS; PHENOTYPE; SEX CHROMOSOME ABERRATIONS; SURAL NERVE;

EID: 0037268446     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0404.2003.01317.x     Document Type: Article

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