Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Mitochondrial disorders are clinically and genetically diverse, with mutations in mitochondrial or nuclear genes able to cause defects in mitochondrial gene expression. Recently, mutations in several genes encoding factors involved in mt-tRNA processing have been identified to cause mitochondrial di...

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Detalles Bibliográficos
Autores principales: Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863561/
https://www.ncbi.nlm.nih.gov/pubmed/27132592
http://dx.doi.org/10.1016/j.ajhg.2016.03.010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863561/
https://www.ncbi.nlm.nih.gov/pubmed/27132592
http://dx.doi.org/10.1016/j.ajhg.2016.03.010

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