Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.
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DOI: 10.1002/acn3.70218
Abstract: Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential… read more here.
Keywords: characterization mfn2; nationwide characterization; mfn2 related; mfn2 ... See more keywords