HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe.
作者信息
Vicente L M, Martí P, Azorín I, Olivé M, Muelas N, Vilchez J J
机构信息
Neuromuscular Reference Centre ERN EURO-NMD and Research Group on NMD and Ataxias, IIS La Fe and CIBERER, Hospital Universitari i Politècnic La Fe, Avenida Fernando Abril Martorell 106, floor 5, tower C, 46026, Valencia, Spain.
Neuromuscular Reference Centre ERN EURO-NMD and Research Group on NMD and Ataxias, IIS La Fe and CIBERER, Hospital Universitari i Politècnic La Fe, Avenida Fernando Abril Martorell 106, floor 5, tower C, 46026, Valencia, Spain.
出版信息
J Neurol Sci. 2020 Jul 15;414:116875. doi: 10.1016/j.jns.2020.116875. Epub 2020 May 1.
PMID:32407983
Abstract
摘要
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