Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10048-014-0402-4.pdf
Reference6 articles.
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2. Deymeer F, Lehmann-Horn F, Serdaroglu P et al (1999) Electrical myotonia in heterozygous carriers of recessive myotonia congenita. Muscle Nerve 22(1):123–125
3. Brugnoni R, Galantini S, Confalonieri P, Balestrini MR, Cornelio F, Mantegazza R (1999) Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita. Hum Mutat 14(5):447. doi: 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU13>3.0.CO;2-Z
4. Duffield M, Rychkov G, Bretag A, Roberts M (2003) Involvement of helices at the dimer interface in ClC-1 common gating. J Gen Physiol 121(2):149–161
5. Suominen T, Schoser B, Raheem O et al (2008) High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. J Neurol 255(11):1731–1736. doi: 10.1007/s00415-008-0010-z
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