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Thr124Met myelin protein zero mutation mimicking motor neuron disease.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2022

Bisogni Giulia, Romano Angela, Conte Amelia, Tasca Giorgio, Bernardo Daniela, Luigetti Marco, Di Paolantonio Andrea, Fabrizi Gian Maria, Patanella Agata Katia, Meleo Emiliana, Sabatelli Mario

Abstract excerpt

Mutations in myelin protein zero (MPZ) are associated with heterogeneous manifestations. In this study, we report clinical, electrophysiological, pathological, and muscle MRI findings from two relatives with MPZ Thr124Met variants, disclosing different phenotypes. The proband was a 73-year-old female with a 12-year-story of atrophy, weakness, and fasciculations in her proximal and distal lower limbs. EMG...

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Identifiers

PMID: 34210210
DOI: 10.1080/21678421.2021.1946086

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