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Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

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Nationwide retrospective analysis of genetic and clinical features in CMT patients, indicating the necessity for genotype-informed care.

MFN2 was identified as the second most common genetic cause of inherited neuropathy in Japan.
A total of 76 MFN2 variants were found, with early onset at a mean age of 11.1 years.
Electrophysiological studies showed axonal sensorimotor patterns, highlighting the importance of early diagnosis.
24 patients (16%) were non-ambulatory, indicating greater weakness and earlier disease onset.

Ando et al. (2025) studied this question.

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