Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.

doi:10.1212/WNL.0000000000000476

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Article

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.

Neurology - 3 Jun 2014

Di Fonzo Alessio, Ronchi Dario, Gallia Francesca, Cribiù Fulvia Milena, Trezzi Ilaria, Vetro Annalisa, Della Mina Erika, Limongelli Ivan, Bellazzi Riccardo, Ricca Ivana, Micieli Giuseppe, Fassone Elisa, Rizzuti Mafalda, Bordoni Andreina, Fortunato Francesco, Salani Sabrina, Mora Gabriele, Corti Stefania, Ceroni Mauro, Bosari Silvano, Zuffardi Orsetta, Bresolin Nereo, Nobile-Orazio Eduardo, Comi Giacomo Pietro

Abstract excerpt

OBJECTIVE: To investigate the molecular defect underlying a large Italian kindred with progressive adult-onset respiratory failure, proximal weakness of the upper limbs, and evidence of lower motor neuron degeneration. METHODS: We describe the clinical features of 5 patients presenting with prominent respiratory insufficiency, proximal weakness of the upper limbs, and no signs of frontotemporal lobar degeneration...

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PMID: 24808015
DOI: 10.1212/WNL.0000000000000476

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MAPT

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