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Article

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

Journal of the peripheral nervous system : JPNS - 1 Dec 2015

Tufano Maria, Cappuccio Gerarda, Terrone Gaetano, Manganelli Fiore, Pisciotta Chiara, Geroldi Alessandro, Capponi Simona, Del Giudice Ennio

Abstract excerpt

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 features, and weakness of lower limbs associated with...

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Identifiers

PMID: 26307494
DOI: 10.1111/jns.12148

Genes

MFN2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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