A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
oleh: Monica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena, Monica Sciacco, Simona Zanotti, Daniela Piga, Gianluigi Ardissino, Fabio Triulzi, Stefania Corti, Giacomo P. Comi, Leonardo Salviati
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-09-01 |
Deskripsi
Mitochondrial DNA (mtDNA) depletion syndromes are disorders characterized by infantile-onset, severe progression, and the drastic loss of mtDNA content in affected tissues. In a patient who showed severe hypotonia, proximal tubulopathy and sensorineural hearing loss after birth, we observed severe mtDNA depletion and impaired respiratory chain activity in muscle due to heterozygous variants c.686G > T and c.551-2A > G in RRM2B, encoding the p53R2 subunit of the ribonucleotide reductase.