Literature DB >> 22888120

Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutation.

Jaroslaw Slawek, Biruta Kierdaszuk, Katarzyna Tonska, Agata Kodron, Michal Schinwelski, Emilia Jadwiga Sitek, Ewa Bartnik, Anna Kaminska, Hubert Kwiecinski.   

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Year:  2012        PMID： 22888120     DOI： 10.1136/jclinpath-2012-200778

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


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  2 in total

1.  Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation--a 5 year follow up.

Authors:  M Schinwelski; B Kierdaszuk; J Dulski; K Tońska; A Kodroń; E J Sitek; E Bartnik; A Kamińska; H Kwieciński; J Sławek
Journal:  Metab Brain Dis       Date:  2014-12-31       Impact factor: 3.584

2.  De novo mtDNA point mutations are common and have a low recurrence risk.

Authors:  Suzanne C E H Sallevelt; Christine E M de Die-Smulders; Alexandra T M Hendrickx; Debby M E I Hellebrekers; Irenaeus F M de Coo; Charlotte L Alston; Charlotte Knowles; Robert W Taylor; Robert McFarland; Hubert J M Smeets
Journal:  J Med Genet       Date:  2016-07-22       Impact factor: 6.318
  2 in total

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