Article
Muscle and skin fibroblast TDP-43 expression, dynamic mutation analysis of NOTCH2NLC and C9orf72 in patients with FOSMN.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2022
Liu Zhuoting, Guo Xia, Guo Haokun, Luo Jing, Xiao Fei
Abstract excerpt
BACKGROUND: Facial-onset sensory and motor neuronopathy (FOSMN) syndrome is a rare clinical syndrome in which the etiopathogenesis and disease-causing genes remain unknown. In addition, clinical and molecular pathological studies have rarely been evaluated in a large case series. METHODS: In this study, we present the clinical features and electrodiagnostic findings of the largest cohort of six patients with...
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