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Article

Identification of a novel mutation in MEF2C gene in an atypical patient with frontotemporal lobar degeneration.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jan 2022

Adrião Andreia, Santana Isabel, Ribeiro Carolina, Cancela M Leonor, Conceição Natércia, Grazina Manuela

Abstract excerpt

The MEF2C gene encodes a transcription factor known to play a crucial role in molecular pathways affecting neuronal development. MEF2C mutations were described as a genetic cause of developmental disease (MRD20), and several reports sustain its involvement in dementia-related conditions, such as Alzheimer's disease and amyotrophic lateral sclerosis. These pathologies and frontotemporal degeneration (FTLD) are...

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PMID: 33999292
DOI: 10.1007/s10072-021-05269-0

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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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