SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature
Author:
Funder
Shahid Beheshti University of Medical Sciences
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s11033-020-05999-y.pdf
Reference45 articles.
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2. Hirano M (2007) 86-Metabolic myopathies. In: Gilman S (ed) Neurobiology of Disease. Academic Press, Burlington, pp 947–956
3. Oldfors A, Tulinius M (2003) Mitochondrial encephalomyopathies. J Neuropathol Exp Neurol 62(3):217–227
4. Rouzier C, Le Guedard-Mereuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S et al (2010) The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. J Med Genet 47(10):670–676
5. Landsverk ML, Zhang VW, Wong LC, Andersson HC (2014) A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies. Mol Genet Metab Rep 1:451–454
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