Article

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

2024-03-12

Abstract excerpt

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 membrane-anchored GTP-binding protein essential for mitochondrial outer membrane fusion. The use of Next-Generation Sequencing for genetic analysis has led to the identification of increasing numbers o...

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Literature Corpus work: 4940daf5-6cb4-573b-bf2c-8160f60b4d15
DOI: 10.1101/2024.03.11.584414

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