Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene-Reference-Cited by-同舟云学术

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene

Published:2011-04 Issue:1-2 Volume:303 Page:142-145
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Cardaioli Elena,Malfatti Edoardo,Da Pozzo Paola,Gallus Gian Nicola,Carluccio Maria Alessandra,Rufa Alessandra,Volpi Nila,Dotti Maria Teresa,Federico Antonio

Funder

University of Siena

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference17 articles.

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4. Clinical and molecular findings in children with complex I deficiency;Bugiani;Biochim Biophys Acta,2004

5. Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases;Lauber;Nucleic Acids Res,1991

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mitochondrial epilepsy in pediatric and adult patients;Acta Neurologica Scandinavica;2013-03-09

2. Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy;European Journal of Human Genetics;2012-02-29

3. Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss;Human Mutation;2012-02-14