The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity

Neuromuscular Disorders

Volumn 11, Issue 5, 2001, Pages 458-463

  Dubourg, O ^a   Tardieu, S ^a   Birouk, N ^a   Gouider, R ^a   Leger J M ^a   Maisonobe, T ^a   Brice, A ^a   Bouche, P ^a   LeGuern, E ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

17p11.2 duplication; Charcot Marie Tooth disease; Connexin 32; Median motor nerve conduction velocity

Indexed keywords

CONNEXIN 32;

ARTICLE; CHROMOSOME 17P; DOMINANT INHERITANCE; ELECTROPHYSIOLOGY; FAMILY STUDY; FEMALE; GENE DUPLICATION; GENE LOCUS; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTOR NERVE CONDUCTION; MUTATION RATE; PRIORITY JOURNAL;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHROMOSOMES, HUMAN, PAIR 17; CONNEXINS; FAMILY HEALTH; FEMALE; GENES, DUPLICATE; GENETIC SCREENING; HUMANS; MALE; MOTOR NEURONS; NEURAL CONDUCTION;

EID: 0034991915     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00222-4     Document Type: Article

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