Literature DB >> 34596777

Novel deletion in the ACTA1 gene associated with milder phenotype of nemaline myopathy in Chinese patient: a case report.

Li Yang1, Xin Mu2, Qiuyan Shen1, Dan Zhang1, Yanming Xu3.   

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Year:  2021        PMID： 34596777     DOI： 10.1007/s10072-021-05625-0

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  4 in total

1.  Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Authors:  Nigel G Laing; Danielle E Dye; Carina Wallgren-Pettersson; Gabriele Richard; Nicole Monnier; Suzanne Lillis; Thomas L Winder; Hanns Lochmüller; Claudio Graziano; Stella Mitrani-Rosenbaum; Darren Twomey; John C Sparrow; Alan H Beggs; Kristen J Nowak
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

2.  Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.

Authors:  Nanna Witting; Ulla Werlauff; Morten Duno; John Vissing
Journal:  Muscle Nerve       Date:  2015-08-13       Impact factor: 3.217

3.  Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.

Authors:  Bethany Friedman; Kara Simpson; Carolina Tesi-Rocha; Delu Zhou; Cheryl A Palmer; Sharon F Suchy
Journal:  Neuromuscul Disord       Date:  2013-12-24       Impact factor: 4.296

4.  Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Authors:  Pankaj B Agrawal; Corinne D Strickland; Charles Midgett; Ana Morales; Daniel E Newburger; Melisa A Poulos; Kinga K Tomczak; Monique M Ryan; Susan T Iannaccone; Tom O Crawford; Nigel G Laing; Alan H Beggs
Journal:  Ann Neurol       Date:  2004-07       Impact factor: 10.422
  4 in total

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