Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes-Reference-Cited by-同舟云学术

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes

Published:2015 Issue: Volume: Page:91-100
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Komulainen Tuomas,Hautakangas Milla-Riikka,Hinttala Reetta,Pakanen Salla,Vähäsarja Vesa,Lehenkari Petri,Olsen Päivi,Vieira Päivi,Saarenpää-Heikkilä Outi,Palmio Johanna,Tuominen Hannu,Kinnunen Pietari,Majamaa Kari,Rantala Heikki,Uusimaa Johanna

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2015_438

Reference40 articles.

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2. Alberio S, Mineri R, Tiranti V, Zeviani M (2007) Depletion of mtDNA: syndromes and genes. Mitochondrion 7:6–12

3. Bornstein B, Area E, Flanigan KM et al (2008) Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord 18:453–459

4. Calvo SE, Compton AG, Hershman SG et al (2012) Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 4(118):118ra10. doi: 10.1126/scitranslmed.3003310

5. Carrozzo R, Dionisi-Vici C, Steuerwald U et al (2007) SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 130:862–874

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