Lower Leg MRI Features in Axonal Charcot-Marie-Tooth Patients with MFN2 Mutations

김승민
서범천
선우일남
심동석

Publication date

January 2007

Journal

Journal of the Korean Neurological Association

Abstract

Background: Mutations in mitofusin2 (MFN2) are a major underlying cause of axonal Charcot-Marie-Tooth neuropathy (CMT). It has been reported that patients with an early age of onset (<10 years, EO) show more severe clinical phenotypes than those of patients with a later age at onset (≥10 years, LO) in CMT2A with MFN2 mutations. There are few studies about CMT patients with MRI studies and we performed leg MRIs for better understanding of CMT2A. Methods: We identified 19 patients (EO=10; LO=9) with MFN2 mutations. We used functional disability scales and CMT neuropathy scales for the grading of disability. Nerve conduction studies and MRIs of the lower leg were performed in all patients. Results: We confirmed that EO had more severe leg musc...

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Lower Leg MRI Features in Axonal Charcot-Marie-Tooth Patients with MFN2 Mutations

Abstract

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Lower Leg MRI Features in Axonal Charcot-Marie-Tooth Patients with MFN2 Mutations

Abstract

Extracted data

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