OMIM: 602668Inheritance: Autosomal dominant
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CNBP |
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| Dna Change: | c.-14-833_-11-830(75_11000) (CCTG(n)) |
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| Protein Change: | |
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| Mutation Type: | Sequence repeat |
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| Mutation Effect: | |
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| Location: | intron 1 |
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| Transcript: | NM_003418.4 |
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References
Coenen MJ, Tieleman AA, Schijvenaars MM, Leferink M, Ranum LP, Scheffer H, van Engelen BG, Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.Eur. J. Hum. Genet.. 2011; 19(5):567-70