Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Revista de Biologia Tropical

Volumn 56, Issue 1, 2008, Pages 1-11

  Morales, Fernando ^a   Cuenca, Patricia ^a   Del Valle, Gerardo ^b   Vásquez, Melissa ^a   Brian, Roberto ^c   Sittenfeld, Mauricio ^d   Johnson, Keith ^e   Lin, Xi ^f   Ashizawa, Tetsuo ^f  

^a UNIVERSIDAD DE COSTA RICA   (Costa Rica)

^b Laboratorio de Neurofisiologia Neurolab   (Costa Rica)

^c HOSPITAL NACIONAL DE NIÑOS   (Costa Rica)

^d HOSPITAL SAN JUAN DE DIOS   (Costa Rica)

^e UNIVERSITY OF GLASGOW   (United Kingdom)

^f University of Texas Medical Branch School of Medicine   (United States)

Author keywords

Becker myotonia; Chloride channelopathy; Myotonia congenita; Myotonic dystrophy; SSCP

Indexed keywords

CHLORIDE CHANNEL; CLC 1 CHANNEL; CLC-1 CHANNEL; RESTRICTION ENDONUCLEASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; COSTA RICA; FEMALE; GENETIC MARKER; GENETICS; HUMAN; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; THOMSEN DISEASE;

ADOLESCENT; ADULT; CHILD; CHLORIDE CHANNELS; COSTA RICA; DNA RESTRICTION ENZYMES; FEMALE; GENETIC MARKERS; HUMANS; MALE; MUTATION; MYOTONIA CONGENITA; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 47749112058     PISSN: 00347744     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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