Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Neuromuscular Disorders

Volumn 22, Issue 3, 2012, Pages 231-243

  Mazón, María J ^a   Barros, Francisco ^b   De la Peña, Pilar ^b   Quesada, Juan F ^c   Escudero, Adela ^c   Cobo, Ana M ^d   Pascual Pascual, Samuel I ^c   Gutiérrez Rivas, Eduardo ^e   Guillén, Encarna ^f   Arpa, Javier ^c   Eraso, Pilar ^a   Portillo, Francisco ^a   Molano, Jesús ^c  

^a INSTITUTO DE INVESTIGACIONES BIOMÉDICAS ALBERTO SOLS   (Spain)

^b UNIVERSITY OF OVIEDO   (Spain)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d HOSPITAL DONOSTIA   (Spain)

^e HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^f UNIVERSITY OF MURCIA   (Spain)

Author keywords

Becker's disease; CLCN1 mutations; Functional analysis; Myotonia congenita; Thomsen disease

Indexed keywords

ARGININE; ASPARTIC ACID; CYSTEINE; GENOMIC DNA; GLUTAMIC ACID; GLUTAMINE; GLYCINE; HISTIDINE; PROLINE; TYROSINE; VALINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLCN1 GENE; CONTROLLED STUDY; EMBRYO; FAMILY; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUSCLE BIOPSY; MUTANT; MUTATIONAL ANALYSIS; MYOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SCHOOL CHILD; SCN4A GENE; SPAIN; THOMSEN DISEASE;

ADOLESCENT; ADULT; BIOPHYSICAL PHENOMENA; BIOPHYSICS; CELL LINE, TRANSFORMED; CHILD; CHLORIDE CHANNELS; ELECTRIC STIMULATION; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; GENETIC TESTING; HUMANS; MALE; MEMBRANE POTENTIALS; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; MUTATION; MYOTONIA; PATCH-CLAMP TECHNIQUES; SPAIN; TRANSFECTION; YOUNG ADULT;

EID: 84858082557     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.10.013     Document Type: Article

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