Article

A novel variant in MFN2 linked to a lethal disorder of neonatal onset

2024-09-06

Abstract excerpt

Pathogenic variants in the mitochondrial fusion protein Mitofusin2 typically cause axonal Charcot-Marie-Tooth disease type 2A (CMT2A), a progressively degenerative peripheral neuropathy. Here, we present two siblings with a lethal disorder of neonatal onset who carried a novel homozygous MFN2 variant R334K, which was predicted to be likely pathogenic. Given the severe clinical presentation, which is atypical of MF...

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Literature Corpus work: 2e1a41c8-1b92-5c87-968e-d9097d2f062f
DOI: 10.1101/2024.09.05.24313021

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