X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

Acta neuropathologica

Volumn 95, Issue 5, 1998, Pages 443-449

  Senderek, J ^a   Bergmann, C ^a   Quasthoff, S ^a   Ramaekers, V T ^a   Schroder J M ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; DNA; GAP JUNCTION PROTEIN;

ADOLESCENT; ARTICLE; CASE REPORT; DOMINANT GENE; FEMALE; GENETIC LINKAGE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SURAL NERVE; X CHROMOSOME;

ADOLESCENT; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; DNA; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SURAL NERVE; X CHROMOSOME;

EID: 0032066457     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050823     Document Type: Article

References (0)