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Article

Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease.

Neuromuscular disorders : NMD - 1 Dec 2020

Barreda Fierro Renée, Herrera Mora Patricia, Zenteno Juan Carlos, Villarroel Cortés Camilo E

Abstract excerpt

Charcot Marie Tooth disease (CMT) is a progressive motor and sensory polyneuropathy, it is characterized by a very heterogeneous molecular basis and phenotype. MFN2 and GDAP1 participate in mitochondrial energy metabolism and the rare coinheritance of its pathogenic variants has been associated with a cumulative effect in the observed phenotype. We describe a patient with a severe axonal CMT and inherited...

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PMID: 33187793
DOI: 10.1016/j.nmd.2020.10.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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