Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.

Abstract

Charcot-Marie-Tooth (CMT) syndromes are a group of clinically heterogeneous disorders of the peripheral nervous system. Mutations of mitofusin 2 (MFN2) have been recognized to be associated with CMT type 2A (CMT2A). CMT2A is primarily an axonal disorder resulting in motor and sensory neuropathy. We report a male child with psychomotor delay, dysmorphic… (More)
DOI: 10.1111/jns.12148

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@article{Tufano2015EarlyOC, title={Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.}, author={Maria Antonietta Tufano and Gerarda Cappuccio and Gaetano Terrone and F Manganelli and Chiara Pisciotta and Alessandro Geroldi and Simona Capponi and Ennio Del Giudice}, journal={Journal of the peripheral nervous system : JPNS}, year={2015}, volume={20 4}, pages={415-8} }