Expanding the phenotype of SLC25A42 -associated mitochondrial encephalomyopathy-Reference-Cited by-同舟云学术

Expanding the phenotype of SLC25A42 -associated mitochondrial encephalomyopathy

Published:2018-03-25 Issue:5 Volume:93 Page:1097-1102
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Almannai M.¹^ORCID,Alasmari A.¹,Alqasmi A.²,Faqeih E.¹,Al Mutairi F.³,Alotaibi M.²,Samman M.M.⁴,Eyaid W.³,Aljadhai Y.I.⁵,Shamseldin H.E.⁶,Craigen W.⁷,Alkuraya F.S.⁶⁸⁹^ORCID

Affiliation:

1. Section of Medical Genetics; Children's Hospital, King Fahad Medical City; Riyadh Saudi Arabia

2. Children's Hospital; King Saud Medical City; Riyadh Saudi Arabia

3. Medical Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences; King Abdulaziz Medical City; Riyadh Saudi Arabia

4. Pathology and Clinical Laboratory Administration, Section of Molecular Pathology; King Fahad Medical City; Riyadh Saudi Arabia

5. Department of Neuroimaging and Intervention, Medical Imaging Administration; King Fahad Medical City; Riyadh Saudi Arabia

6. Department of Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

7. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

8. Department of Anatomy and Cell Biology, College of Medicine; Alfaisal University; Riyadh Saudi Arabia

9. Saudi Human Genome Program; King Abdulaziz City for Science and Technology; Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13210/fullpdf

Reference16 articles.

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2. Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans;Shamseldin;Hum Genet,2016

3. Diagnosis and treatment of mitochondrial myopathies;Pfeffer;Ann Med,2013

4. Review: central nervous system involvement in mitochondrial disease;Lax;Neuropathol Appl Neurobiol,2017

5. Modulation of mitochondrial membrane permeability in pathogenesis, autophagy and control of metabolism;Lemasters;J Gastroenterol Hepatol,2007

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