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Chloe Barsa

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A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot–Marie-Tooth disease of type 2 A - Scientific Reports

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By Arnaud Mourier, Chloe Barsa
| Nature Verified
Abstract Charcot–Marie-Tooth Disease (CMT) is an inherited peripheral neuropathy with two main forms: demyelinating CMT1 and axonal CMT2. The most frequent subtype of CMT2 (CMT2A) is linked to mutations of MFN2, encoding a ubiquitously expressed GTP-binding protein anchored to the mitochondrial outer membrane and essential for mitochondrial fusion.
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