ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder

Zuhair N Al-Hassnan; Mazhor Al-Dosary; Majid Alfadhel; Eissa A Faqeih; Maysoon Alsagob; Rosan Kenana; Rawan Almass; Olfat S Al-Harazi; Hindi Al-Hindi; Omhani I Malibari; Faten B Almutari; Sahar Tulbah; Faten Alhadeq; Tarfa Al-Sheddi; Rana Alamro; Ali AlAsmari; Makki Almuntashri; Hesham Alshaalan; Futwan A Al-Mohanna; Dilek Colak; Namik Kaya

doi:10.1136/jmedgenet-2014-102592

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ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder

Authors

Zuhair N Al-Hassnan Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia College of Medicine, Alfaisal University, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Mazhor Al-Dosary Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Majid Alfadhel Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Eissa A Faqeih Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Maysoon Alsagob Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Rosan Kenana Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Rawan Almass Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Olfat S Al-Harazi Department of Biostatistics and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Hindi Al-Hindi Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Omhani I Malibari Pediatrics Department, King Abdullah Medical City, Maternity & Children's Hospital, Al-Madīnah al-Munawarah, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Faten B Almutari Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Sahar Tulbah Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Faten Alhadeq Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Tarfa Al-Sheddi Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Rana Alamro Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Ali AlAsmari Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Makki Almuntashri Department of Radiology, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Hesham Alshaalan Department of Radiology, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Futwan A Al-Mohanna College of Medicine, Alfaisal University, Riyadh, Saudi Arabia Department of Cell Biology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Dilek Colak Department of Biostatistics and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles
Namik Kaya Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Biostatistics and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia PubMed articles Google scholar articles

Correspondence to Dr Namik Kaya, Department of Genetics, Neurogenetics Unit, King Faisal Specialist Hospital and Research Center, MBC: 03, Riyadh 11211, Saudi Arabia; nkaya{at}kfshrc.edu.sa, namikkaya{at}gmail.com

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Citation

Al-Hassnan ZN, Al-Dosary M, Alfadhel M, et al

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder

Journal of Medical Genetics 2015;52:186-194.

Publication history

Received July 8, 2014
Revised November 15, 2014
Accepted December 10, 2014
First published December 24, 2014.

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April 21, 2020

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