A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita

Muscle and Nerve

Volumn 24, Issue 3, 2001, Pages 357-363

  Sasaki, R ^a   Ito, N ^a   Shimamura, M ^b   Murakami, T ^b   Kuzuhara, S ^a   Uchino, M ^b   Uyama, E ^b  

^a MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

CLC 1; CLCN1; Gene dosage effect; Long train nerve stimulation test; Thomsen's myotonia congenita

Indexed keywords

CHLORIDE CHANNEL; COMPLEMENTARY DNA; GENE PRODUCT; PROLINE; PROTEIN CLCN1; THREONINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CAUCASIAN; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JAPAN; MALE; MYOTONIC DYSTROPHY; NERVE STIMULATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; THOMSEN DISEASE;

ADULT; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; JAPAN; MALE; MIDDLE AGED; MYOTONIA CONGENITA; PEDIGREE; POINT MUTATION; ULNAR NERVE;

EID: 0035111624     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-4598(200103)24:3<357::AID-MUS1006>3.0.CO;2-E     Document Type: Article

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