Progressive external ophthalmoplegia associated with novel MT ‐ TN mutations
Author:
Affiliation:
1. Department of Laboratory Medicine Sahlgrenska Academy University of Gothenburg Gothenburg Sweden
2. Department of Neurology Sahlgrenska University Hospital Gothenburg Sweden
Publisher
Wiley
Subject
Neurology (clinical),Neurology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ane.13339
Reference20 articles.
1. The genetics and pathology of mitochondrial disease;Alston CL;J Pathol,2017
2. Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis
3. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
4. Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease
5. A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure;Meulemans A;Arch Neurol,2006
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