Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia

Neurogenetics

Volumn 1, Issue 3, 1998, Pages 185-188

  Esteban, Jesus ^a,b   Neumeyer, Ann M ^a   McKenna Yasek, Diane ^a   Brown, Robert H ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Becker's generalized myotonia; CLCN 1 gene; Muscle chloride channel; Myotonia congenita; Thomsen's disease

Indexed keywords

CHLORIDE CHANNEL; DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CHEMISTRY; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION; GENETIC POLYMORPHISM; GENETICS; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; THOMSEN DISEASE;

AMINO ACID SUBSTITUTION; CHLORIDE CHANNELS; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; MYOTONIA CONGENITA; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC;

EID: 0032008671     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050027     Document Type: Article

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