Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis

Chang Gung Medical Journal

Volumn 27, Issue 7, 2004, Pages 489-500

  Wu, Tony ^a   Wang, Hung Li ^b   Chu, Chun Che ^a   Yu, Jia Ming ^c   Chen, Jeng Yeou ^a   Huang, Chin Chang ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG UNIVERSITY   (Taiwan)

^c JEN AI HOSPITAL   (Taiwan)

Author keywords

Connexin32; Electrophysiology; Familial hyperthyroidism; Ptosis; X linked dominant Charcot Marie Tooth neuropathy

Indexed keywords

CONNEXIN 32;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; FAMILY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTHYROIDISM; MALE; NERVE BIOPSY; PROMOTER REGION; PTOSIS; SURAL NERVE; TAIWAN; X CHROMOSOME LINKED DISORDER;

ACUTE DISEASE; ADOLESCENT; ADULT; AGED; BLEPHAROPTOSIS; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; ELECTROPHYSIOLOGY; FEMALE; GENES, DOMINANT; GENETIC DISEASES, X-LINKED; HUMANS; HYPERTHYROIDISM; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 4544378783     PISSN: 02558270     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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