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Autosomal recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect

Lookup NU author(s): Professor Rita HorvathORCiD

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Publication metadata

Author(s): Wilichowski EKG, Abicht A, Mayr H, Horvath R, Sperl W, Gartner J

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: International Congress of The World Muscle Society

Year of Conference: 2014

Pages: 866-866

Print publication date: 01/10/2014

Online publication date: 02/09/2014

ISSN: 1873-2364

Publisher: Elsevier Ltd.

URL: http://dx.doi.org/10.1016/j.nmd.2014.06.244

DOI: 10.1016/j.nmd.2014.06.244

Notes: G.P.188

Series Title: Neuromuscular Disorders


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