A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease-Reference-Cited by-同舟云学术

A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

Published:2016-03 Issue: Volume:6 Page:70-73
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Filosto Massimiliano,Lanzi Gaetana,Nesti Claudia,Vielmi Valentina,Marchina Eleonora,Galvagni Anna,Giliani Silvia,Santorelli Filippo M.,Padovani Alessandro

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference32 articles.

1. Mitochondrial disorders;Zeviani;Brain,2004

2. Mutations causing mitochondrial disease: what is new and what challenges remain?;Lightowlers;Science,2015

3. Mitochondrial DNA and disease;Greaves;J. Pathol.,2012

4. Role of adenine nucleotide translocator 1 in mtDNA maintenance;Kaukonen;Science,2000

5. Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria;Spelbrink;Nat. Genet.,2001

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4. Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease;Molecular Genetics and Metabolism Reports;2016-06

5. Double trouble progressive external ophthalmoplegia and Huntington's disease;Molecular Genetics and Metabolism Reports;2016-06