Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy

Journal of the Neurological Sciences

Volumn 207, Issue 1-2, 2003, Pages 77-86

  Kuntzer, Thierry ^a   Dunand, Murielle ^a   Schorderet, Daniel F ^a   Vallat, Jean Michel ^b   Hahn, Angelika F ^c   Bogousslavsky, Julien ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b DUPUYTREN UNIVERSITY HOSPITAL   (France)

^c Ctr Hosp Universitaire Dupuytren ^*  (Canada)

Author keywords

CMTX; Connexin 32 mutation; Hereditary motor and sensory neuropathies; X linked Charcot Marie Tooth

Indexed keywords

CONNEXIN 32;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; CELL DEGENERATION; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONFERENCE PAPER; CORRELATION ANALYSIS; CORRELATION COEFFICIENT; DEMYELINATION; DISABILITY; DISEASE DURATION; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FAMILY; FEMALE; GAIT DISORDER; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; MOTOR NERVE; MOTOR NERVE CONDUCTION; NERVE FIBER DEGENERATION; NERVE FIBER REGENERATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; SCHWANN CELL; SKELETON MALFORMATION; STATISTICAL ANALYSIS; SWITZERLAND; THENAR; ULNAR NERVE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; CONNEXINS; FEMALE; HUMANS; LEUCINE; MALE; MIDDLE AGED; NEURAL CONDUCTION; PEDIGREE; PHENOTYPE; POINT MUTATION; STATISTICS, NONPARAMETRIC;

EID: 12244278266     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(02)00394-5     Document Type: Conference Paper

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