Article
Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.
Human mutation - 1 Jan 2026
de Feraudy Yvan, Maino Anthony, Boedec Morgane, Lornage Xavière, Romero Norma B, Monges Soledad, Lubieniecki Fabiana, Foncuberta Marίa Eugenia, Tard Celine, Maurage Claude-Alain, Csanyi Marie, Marcorelles Pascale, Stojkovic Tanya, Feasson Leonard, Fradin Mélanie, Gousse Gaelle, Laugel Vincent, Masingue Marion, Nadaj-Pakleza Aleksandra, Bevilacqua Jorge Alfredo, Neb Study Group, Rendu John, Bohm Johann, Biancalana Valérie, Laporte Jocelyn
Abstract excerpt
Congenital nemaline myopathies are rare genetic disorders that typically manifest at birth or in childhood, with muscle weakness and respiratory distress. They are characterized by the presence of rod-like structures on the muscle biopsy, or a mix of rods with cores, focal areas with disorganization of oxidative activity. Pathogenic variants in the NEB gene represent a main cause of these conditions. However,...
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