Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita

Acta Neurologica Scandinavica

Volumn 113, Issue 5, 2006, Pages 342-346

  Kuo, H C ^a   Hsiao, K M ^b   Chang, L I ^b   You, T H ^b   Yeh, T H ^a   Huang, C C ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

Author keywords

CLCN1 mutations; Molecular genetic analysis; Myotonia congenita

Indexed keywords

CHLORIDE CHANNEL;

ADULT; ALLELE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLCN1 GENE; CLINICAL FEATURE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; INHERITANCE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RECESSIVE INHERITANCE; THOMSEN DISEASE;

ADULT; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; ELECTROMYOGRAPHY; EXONS; FEMALE; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; MUTATION; MYOTONIA CONGENITA; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 33645466458     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2006.00589.x     Document Type: Article

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