Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

David J Coote¹, Mark R Davis², Macarena Cabrera³, Merrilee Needham⁴, Nigel G Laing^{1

2}, Kristen J Nowak^{5

6

7}

Affiliations

¹ Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia; and Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, Nedlands, WA, 6009, Australia.
² Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, 6009, Australia.
³ Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Seville, 41013, Spain.
⁴ Western Australian Neuroscience Institute, QEII Medical Centre, Nedlands, Western Australia 6009; Fiona Stanley Hospital, 11 Robin Warren Drive, Murdoch, WA, 6150, Australia.
⁵ Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia; and Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, Nedlands, WA, 6009, Australia. kristen.nowak@health.wa.gov.au.
⁶ School of Biomedical Sciences, Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, WA, Australia. kristen.nowak@health.wa.gov.au.
⁷ Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, East Perth, WA, 6004, Australia. kristen.nowak@health.wa.gov.au.

David J Coote et al. Eur J Hum Genet. 2018 Jul.

. 2018 Jul;26(7):1072-1077.

doi: 10.1038/s41431-017-0065-3. Epub 2018 Apr 26.

David J Coote¹, Mark R Davis², Macarena Cabrera³, Merrilee Needham⁴, Nigel G Laing^{1

2}, Kristen J Nowak^{5

6

7}

¹ Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia; and Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, Nedlands, WA, 6009, Australia.
² Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, 6009, Australia.
³ Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Seville, 41013, Spain.
⁴ Western Australian Neuroscience Institute, QEII Medical Centre, Nedlands, Western Australia 6009; Fiona Stanley Hospital, 11 Robin Warren Drive, Murdoch, WA, 6150, Australia.
⁵ Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia; and Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, Nedlands, WA, 6009, Australia. kristen.nowak@health.wa.gov.au.
⁶ School of Biomedical Sciences, Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, WA, Australia. kristen.nowak@health.wa.gov.au.
⁷ Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, East Perth, WA, 6004, Australia. kristen.nowak@health.wa.gov.au.

No abstract available

Conflict of interest statement

The authors declare that they have no conflict of interest.

1. Lossin C, George Jr AL. Ion channel diseases. In: Hall JC, Dunlap JC, Friedmann T, van Heyningen V, editors. Advances in Genetics. Academic Press, San Diego; 2008. 63, p. 25–55.
1. Baumann P, Myllylä VV, Leisti J. Myotonia congenita in northern Finland: an epidemiological and genetic study. J Med Genet. 1998;35:293–96. doi: 10.1136/jmg.35.4.293. - DOI - PMC - PubMed
1. Tang CY, Chen TY. Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia. J Biomed Biotechnol. 2011;2011:685328. - PMC - PubMed
1. Fialho D, Schorge S, Pucovska U, et al. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Brain. 2007;130:3265–74. doi: 10.1093/brain/awm248. - DOI - PubMed
1. Raja Rayan DL, Haworth A, Sud R, et al. A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. Neurology. 2012;78:1953–58. doi: 10.1212/WNL.0b013e318259e19c. - DOI - PMC - PubMed