Article
Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.
European journal of neurology - 1 Aug 2020
Fernández-Eulate G, Fernández-Torrón R, Guisasola A, Gaspar M T I, Diaz-Manera J, Maneiro M, Zulaica M, Olasagasti V, Formica A F, Espinal J B, Ruiz M, Schlüter A, Pujol A, Poza J J, López de Munain A
Abstract excerpt
BACKGROUND AND PURPOSE: BSCL2 heterozygote mutations are a common cause of distal hereditary motor neuropathies (dHMNs). A series of BSCL2 patients is presented and clinical, neurophysiological and muscle magnetic resonance imaging (MRI) findings are correlated. METHODS: Twenty-six patients from five families carrying the p.N88S mutation were identified. Age of onset, clinical phenotype (dHMN,...
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