Literature DB >> 32096065

A novel single-base mutation mimicking exon deletion of MLPA in symptomatic Duchenne muscular dystrophy carrier.

Min-Sub Cho1, Jong-Mok Lee2,3.   

Abstract

Entities:  

Keywords:  INDEL mutation; Muscle weakness; Whole-exome sequencing; X-chromosome inactivation

Year:  2020        PMID： 32096065     DOI： 10.1007/s13760-020-01305-6

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.396


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  4 in total

1.  Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study.

Authors:  E M Hoogerwaard; E Bakker; P F Ippel; J C Oosterwijk; D F Majoor-Krakauer; N J Leschot; A J Van Essen; H G Brunner; P A van der Wouw; A A Wilde; M de Visser
Journal:  Lancet       Date:  1999-06-19       Impact factor: 79.321

2.  Muscle MRI findings in limb girdle muscular dystrophy type 2L.

Authors:  Anna Sarkozy; Marcus Deschauer; Robert-Yves Carlier; Bertold Schrank; Jürgen Seeger; Maggie C Walter; Benedikt Schoser; Peter Reilich; France Leturq; Aleksandar Radunovic; Anthony Behin; Pascal Laforet; Bruno Eymard; Herbert Schreiber; Debbie Hicks; Sujit S Vaidya; Dieter Gläser; Pierre G Carlier; Kate Bushby; Hanns Lochmüller; Volker Straub
Journal:  Neuromuscul Disord       Date:  2012-10-01       Impact factor: 4.296

3.  Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization.

Authors:  Florencia Giliberto; Claudia Pamela Radic; Leonela Luce; Verónica Ferreiro; Carlos de Brasi; Irene Szijan
Journal:  J Neurol Sci       Date:  2013-10-05       Impact factor: 3.181

Review 4.  Mutation-Based Therapeutic Strategies for Duchenne Muscular Dystrophy: From Genetic Diagnosis to Therapy.

Authors:  Akinori Nakamura
Journal:  J Pers Med       Date:  2019-03-04
  4 in total

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