X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene

Neurological Sciences

Volumn 23, Issue 4, 2002, Pages 195-197

  Ma, W ^a   Farrukh Nizam, M ^a   Grewal, R P ^a  

^a SETON HALL UNIVERSITY   (United States)

Author keywords

Connexin gene; Point mutation; X linked Charcot Marie Tooth disease

Indexed keywords

ADENINE; CONNEXIN 32; GUANINE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEMYELINATION; ELECTROPHYSIOLOGY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CONSERVATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUSCLE WEAKNESS; NERVE CONDUCTION; NERVE FIBER DEGENERATION; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; SEQUENCE ANALYSIS;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; DNA MUTATIONAL ANALYSIS; ELECTRODIAGNOSIS; GAIT DISORDERS, NEUROLOGIC; GENETIC DISEASES, X-LINKED; HUMANS; MALE; NEURAL CONDUCTION; POINT MUTATION;

EID: 0036807538     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100720200061     Document Type: Article

References (5)

1. Fishbeck KH, Abel A, Lin GS, Scherer SS (1999) X-linked Charcot-Marie-Tooth disease and connexin32. Ann N Y Acad Sci 883:36-41
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4. Nelis E, Van Broeckhoven C, De Jonghe P et al (1996) Estimation of mutation frequencies in Charchot-Marie-Thooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 4:25-33
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