Literature DB >> 8211039

[Quadriceps myopathy as dystrophin-associated myopathy].

H C von Mitzlaff1, S Liechti-Gallati, K M Rösler, J M Burgunder.   

Abstract

Duchenne and Becker muscular dystrophy are both caused by a deletion in the dystrophin gene. In the past few years, many reports of atypical myopathies have been published where an association with a deletion within the same gene was found. We report one sporadic and one familial case of myopathy where we were able to demonstrate a deletion of the dystrophin locus using DNA analysis.

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Year:  1993        PMID: 8211039

Source DB:  PubMed          Journal:  Schweiz Med Wochenschr        ISSN: 0036-7672


  2 in total

1.  Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

Authors:  Aravindhan Veerapandiyan; Vandana Shashi; Yong-Hui Jiang; William Brian Gallentine; Kelly Schoch; Edward Clinton Smith
Journal:  Muscle Nerve       Date:  2010-12       Impact factor: 3.217

2.  A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.

Authors:  Jerry R Mendell; Zarife Sahenk; Vinod Malik; Ana M Gomez; Kevin M Flanigan; Linda P Lowes; Lindsay N Alfano; Katherine Berry; Eric Meadows; Sarah Lewis; Lyndsey Braun; Kim Shontz; Maria Rouhana; Kelly Reed Clark; Xiomara Q Rosales; Samiah Al-Zaidy; Alessandra Govoni; Louise R Rodino-Klapac; Mark J Hogan; Brian K Kaspar
Journal:  Mol Ther       Date:  2014-10-17       Impact factor: 11.454

  2 in total

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