Home » Authors » Arnaud Chevrollier, Adeline Alice Bonnard, Lyse Ruaud, Naïg Gueguen, Laurence Perrin, Valérie Desquiret-Dumas, Fabien Guimiot, Pierre-Hadrien Becker, Jonathan Levy, Pascal Reynier, Pauline Gaignard

Arnaud Chevrollier, Adeline Alice Bonnard, Lyse Ruaud, Naïg Gueguen, Laurence Perrin, Valérie Desquiret-Dumas, Fabien Guimiot, Pierre-Hadrien Becker, Jonathan Levy, Pascal Reynier, Pauline Gaignard

Public reference bibliography and cataloged PDF materials authored or published by Arnaud Chevrollier, Adeline Alice Bonnard, Lyse Ruaud, Naïg Gueguen, Laurence Perrin, Valérie Desquiret-Dumas, Fabien Guimiot, Pierre-Hadrien Becker, Jonathan Levy, Pascal Reynier, Pauline Gaignard.

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Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria

Year: 2024 • Source: hal.science • Listed PDF

Pathogenic variants in the MFN2 gene are commonly associated with autosomal dominant (CMT2A2A) or recessive (CMT2A2B) Charcot-Marie-Tooth disease, with possible involvement of the CNS. Here, we present a case of severe a...