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Article

Aggressive FUS-Mutant Motor Neuron Disease Without Profound Spinal Cord Pathology.

Journal of neuropathology and experimental neurology - 1 Apr 2020

Wongworawat Yan Chen, Liu Yin Allison, Raghavan Ravi, White Charles L, Dietz Robin, Zuppan Craig, Rosenfeld Jeffrey

Abstract excerpt

A 29-year-old man presented with rapidly progressive severe neck weakness, asymmetrical bilateral upper extremity weakness, bulbar dysfunction, profound muscle wasting, and weight loss. Within 1 year, his speech became unintelligible, he became gastrostomy- and tracheostomy/ventilator-dependent, and wheelchair bound. Electrophysiology suggested motor neuron disease. Whole exome sequencing revealed a heterozygous...

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Identifiers

PMID: 32142142
DOI: 10.1093/jnen/nlaa011

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