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Phenotypic Heterogeneity of ISCA2 Variants

International Journal of Medical Science
© 2018 by SSRG - IJMS Journal
Volume 5 Issue 5
Year of Publication : 2018
Authors : Josef Finsterer
10.14445/23939117/IJMS-V5I5P103
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How to Cite?

Josef Finsterer, "Phenotypic Heterogeneity of ISCA2 Variants," SSRG International Journal of Medical Science, vol. 5,  no. 5, pp. 10-11, 2018. Crossref, https://doi.org/10.14445/23939117/IJMS-V5I5P103

Abstract:

 ISCA2 variants have been recently reported to be responsible for a multisystem mitochondrial disease, predominantly affecting the central nervous system. The largest series of patients has been recently reported but it lacks prospective investigations for multiorgan involvement and specification of spinal cord involvement.

Keywords:

 ISCA2, mitochondrial, mtDNA, cerebrum, neurodegeneration, multisystem

References:

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