Literature DB >> 26170401

Toe-extension myotonia in myotonic dystrophy type 1.

Ami Mankodi1, Christopher Grunseich2.   

Abstract

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Year:  2015        PMID: 26170401      PMCID: PMC4515039          DOI: 10.1212/WNL.0000000000001734

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


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  2 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

2.  Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Authors:  Claudia Braida; Rhoda K A Stefanatos; Berit Adam; Navdeep Mahajan; Hubert J M Smeets; Florence Niel; Cyril Goizet; Benoit Arveiler; Michel Koenig; Clotilde Lagier-Tourenne; Jean-Louis Mandel; Catharina G Faber; Christine E M de Die-Smulders; Frank Spaans; Darren G Monckton
Journal:  Hum Mol Genet       Date:  2010-01-15       Impact factor: 6.150

  2 in total

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