Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

Muscle and Nerve

Volumn 41, Issue 4, 2010, Pages 464-469

  Shalata, Adel ^a   Furman, Haya ^a   Adir, Vardit ^a   Adir, Noam ^b   Hujeirat, Yasir ^b   Shalev, Stavit A ^b,c   Borochowitz, Zvi U ^a,b  

^a BNAI ZION MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c HAEMEK MEDICAL CENTER   (Israel)

Author keywords

Autosomal dominant; CLCN1 gene; Mutation; Myotonia congenita

Indexed keywords

CHLORIDE CHANNEL; GENOMIC DNA; GLYCINE; SERINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SAMPLING; CLCN1 GENE; CLINICAL FEATURE; CONTROLLED STUDY; DNA EXTRACTION; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; SKELETAL MUSCLE; THOMSEN DISEASE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARABS; BASE SEQUENCE; CHILD; CHLORIDE CHANNELS; CONSANGUINITY; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOTONIA CONGENITA; PEDIGREE; YOUNG ADULT;

EID: 77950195281     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21525     Document Type: Article

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