Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation

Acta Neurologica Taiwanica

Volumn 16, Issue 4, 2007, Pages 214-220

  Chang, Ting Yu ^a   Kuo, Hung Chou ^a   Hsiao, Kuang Ming ^b   Huang, Chin Chang ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

Author keywords

CLCN1 mutation; Myotonia congenita; Phenotypic variability

Indexed keywords

CHLORIDE CHANNEL;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; ELECTROMYOGRAPHY; FEMALE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; LABORATORY TEST; MALE; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; PHENOTYPE; THOMSEN DISEASE;

ADOLESCENT; AGED; CHLORIDE CHANNELS; ELECTROMYOGRAPHY; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOTONIA CONGENITA; PHENOTYPE;

EID: 37549062143     PISSN: 10196099     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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