Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome
Author:
Affiliation:
1. ; Genetics Unit, Department of Biochemistry; University of Oxford; UK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000016622.05609.b8/fullpdf
Reference8 articles.
1. Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome);Hayasaka;J Inherit Metab Dis,1989
2. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients;Pequignot;J Biol Chem,2001
3. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency;Pequignot;Hum Mutat,2001
4. A SURF1 gene mutation presenting as isolated leukodystrophy;Rahman;Ann Neurol,2001
5. Heteroduplexes in mixed-template amplifications: formation, consequence and elimination by ‘reconditioning PCR’;Thompson;Nucleic Acids Res,2002
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1. Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity;Mitochondrion;2020-07
2. Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases;Mitochondrial Disorders Caused by Nuclear Genes;2012-09-18
3. Atypical amyoplasia congenita in an infant with Leigh syndrome: A mitochondrial cause of severe contractures?;American Journal of Medical Genetics Part A;2012-08-07
4. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients;European Journal of Paediatric Neurology;2009-03
5. Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease;Journal of Clinical Pathology;2007-10-01
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