Concepedia

Publication | Open Access

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

DOIFull Paper Access

10

Citations

23

References

2020

Year

Mouna Habbane, Laura Llobet, M. Pilar Bayona‐Bafaluy, José Eulalio Bárcena, Leticia Ceberio, Covadonga Gómez-Díaz, Laura Gort, Rafael Artuch, Julio Montoya, Eduardo Ruiz‐Pesini
Genes

Abstract

The m.1555A>G pathological mutation, accompanied with an unknown nuclear DNA (nDNA) factor, could be the cause of the phenotypic manifestations in this pedigree.

References

YearCitations

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