Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.W740R
Back to variants list

MFN2

NM_014874.4:p.W740R

Associated Papers

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

Barsa C et al.

Scientific Reports, 2025

40121276 (PubMed )
Supplement: 41598_2025_93702_MOESM1_ESM.pdf

The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.

Wu R et al.

Frontiers in Neuroscience, 2021

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

Dankwa L et al.

Journal of the Peripheral Nervous System : Jpns, 2018

A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A.

Lv H et al.

Journal of the Neurological Sciences, 2015

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

Stuppia G et al.

Journal of the Neurological Sciences, 2015

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

Bergamin G et al.

Neuromolecular Medicine, 2014

Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses.

Lv H et al.

Clinical Neuropathology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."