Article
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum.
European journal of neurology - 1 Jul 2020
Tasca G, Lattante S, Marangi G, Conte A, Bernardo D, Bisogni G, Mandich P, Zollino M, Ragozzino E, Udd B, Sabatelli M
Abstract excerpt
BACKGROUND AND PURPOSE: The aim of our study was to describe patients with the p.D12Y variant (previously reported as D11Y) in SOD1 showing heterogeneous clinicopathological features. METHODS: We performed clinical, electrophysiological, magnetic resonance imaging (MRI) and muscle pathology studies in four SOD1 p.D12Y variant-positive patients. RESULTS: The SOD1 p.D12Y clinical manifestations ranged from a benign...
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