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  • Title: A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation.
    Author: Kanemaru K, Ogawa G, Mochizuki H, Nakazato M, Shiomi K.
    Journal: Intern Med; 2019 Jul 15; 58(14):2091-2093. PubMed ID: 30996168.
    Abstract:
    A 33-year-old Japanese woman was referred for hoarseness. She had been diagnosed with Charcot-Marie-Tooth disease at age 3 and bilateral optic atrophy at age 15. Laryngoscopy revealed left vocal fold palsy. These findings suggested Charcot-Marie-Tooth disease type 2; the diagnosis was confirmed by a mitofusin 2 mutation analysis. Her symptoms remained stable for almost 10 years. Although vocal fold palsy and optic atrophy have been previously reported in patients with mitofusin 2 mutations, detailed clinical information and clinical course have never been documented. These data might contribute to the elucidation of the pathological conditions associated with mitofusin 2 mutations.
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