Myotonia congenita and myotonic dystrophy in the same family: Coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

Clinical Genetics

Volumn 80, Issue 6, 2011, Pages 574-580

  Sun, C ^a,b   Van Ghelue, M ^a,c   Tranebjaerg L ^c,d,e   Thyssen, F ^c   Nilssen, O ^a,c   Torbergsen, T ^c,f  

^a UNIVERSITY OF TROMSØ   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^d BISPEBJERG HOSPITAL   (Denmark)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

^f OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

CLCN1 mutation; CNBP tetranucleotide repeat expansion; Myotonia congenita; Myotonic dystrophy type 2 (DM2)

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE; NUCLEIC ACID BINDING PROTEIN; PEPTIDES AND PROTEINS; PROTEIN CLCN1; PROTEIN CNBP; UNCLASSIFIED DRUG;

ADULT; ARTICLE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; MYOTONIC DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; THOMSEN DISEASE; TRINUCLEOTIDE REPEAT;

ADOLESCENT; AGED; ALLELES; CHILD; CHLORIDE CHANNELS; FEMALE; GENETIC TESTING; HETEROZYGOTE; HUMANS; MALE; MUSCLE WEAKNESS; MUTATION; MYOTONIA CONGENITA; MYOTONIC DISORDERS; MYOTONIC DYSTROPHY; NORWAY; PEDIGREE; PHENOTYPE; PREGNANCY; RNA-BINDING PROTEINS; YOUNG ADULT;

EID: 80054878098     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01616.x     Document Type: Article

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