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Research Article | Open Access
Volume 5 | Issue 5 | Year 2018 | Article Id. IJMS-V5I5P103 | DOI : https://doi.org/10.14445/23939117/IJMS-V5I5P103

Phenotypic Heterogeneity of ISCA2 Variants

Josef Finsterer

Citation :

Josef Finsterer, "Phenotypic Heterogeneity of ISCA2 Variants," 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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