De Novo MFN2 p.Arg95Met in Severe Charcot-Marie-Tooth Disease Type 2A.

J Peripher Nerv SystSep 1, 2026
Case ReportMedical GeneticsNeurologyOpen access

Hsi-Yen Lee, Wen-Ling Cheng, Shin-Hung Pan et al.

✦ AI-curated · Sources linked

Case in brief

A 30-year-old Taiwanese woman presented with severe axonal sensorimotor neuropathy, characterized by early-onset weakness, distal wasting, optic atrophy, and bilateral sensorineural hearing loss. She became wheelchair-dependent in adolescence. Nerve conduction studies indicated severe chronic axonal sensorimotor polyneuropathy. Genetic analysis revealed a de novo MFN2 variant, p.Arg95Met, contributing to her condition.

Diagnostic / clinical pearl

Clinicians should consider the Arg94/Arg95 region of the MFN2 gene when evaluating patients with severe early-onset Charcot-Marie-Tooth disease type 2A.

Source

PubMed · PMID 42338388Free full text on PubMed Central

Published in J Peripher Nerv Syst. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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