Literature DB >> 24705798

Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient.

Charles D Kassardjian1, Margherita Milone.   

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Year:  2014        PMID： 24705798     DOI： 10.1007/s10048-014-0402-4

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  6 in total

1.  High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.

Authors:  T Suominen; B Schoser; O Raheem; S Auvinen; M Walter; R Krahe; H Lochmüller; W Kress; B Udd
Journal:  J Neurol       Date:  2008-09-24       Impact factor: 4.849

Review 2.  The myotonic dystrophies: molecular, clinical, and therapeutic challenges.

Authors:  Bjarne Udd; Ralf Krahe
Journal:  Lancet Neurol       Date:  2012-10       Impact factor: 44.182

3.  Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.

Authors:  R Brugnoni; S Galantini; P Confalonieri; M R Balestrini; F Cornelio; R Mantegazza
Journal:  Hum Mutat       Date:  1999-11       Impact factor: 4.878

4.  Electrical myotonia in heterozygous carriers of recessive myotonia congenita.

Authors:  F Deymeer; F Lehmann-Horn; P Serdaroğlu; S Cakirkaya; S Benz; R Rüdel; C Ozdemir
Journal:  Muscle Nerve       Date:  1999-01       Impact factor: 3.217

5.  Involvement of helices at the dimer interface in ClC-1 common gating.

Authors:  Michael Duffield; Grigori Rychkov; Allan Bretag; Michael Roberts
Journal:  J Gen Physiol       Date:  2003-02       Impact factor: 4.086

6.  Dystrophia myotonica and myotonia congenita concurring in one family. A clinical and genetic study.

Authors:  C J Höweler; H F Busch; L F Bernini; E van Loghem; P Meera Khan; L E Nijenhuis
Journal:  Brain       Date:  1980-09       Impact factor: 13.501
  6 in total
  1 in total

1.  Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.

Authors:  Sara Locci; Rosanna Cardani; Paola Brunori; Sabrina Lucchiari; Giacomo P Comi; Antonio Federico; Nicola De Stefano; Giovanni Meola; Andrea Mignarri
Journal:  Neurol Sci       Date:  2021-08-13       Impact factor: 3.307
  1 in total

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