Edoardo Malfatti1, Soledad Monges2, Vilma-Lotta Lehtokari3, Ursula Schaeffer4, Osorio Abath Neto4, Kirsi Kiiski3, Fabiana Lubieniecki2, Ana Lía Taratuto2, Carina Wallgren-Pettersson5, Jocelyn Laporte4, Norma B Romero6. 1. Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. 2. Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina. 3. Department of Medical Genetics, Haartman Institute, University of Helsinki, and the Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland. 4. Department of Translational Medecine, IGBMC, INSERM U964, UMR7104, Strasbourg University, Illkirch, France. 5. The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland. 6. Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address: nb.romero@institut-myologie.org.
Abstract
BACKGROUND: Congenital myopathies (CM) are a group of rare inherited muscle disorders characterized by particular histopathological alterations on muscle biopsy. Core-rod myopathy is a CM presenting with cores and rods as distinctive muscle morphological features. METHODS/ RESULTS: We describe 3 young patients presenting congenital core-rod myopathy with bilateral foot-drop associated with autosomal recessive nebulin gene (NEB) mutations detected by exome sequencing. CONCLUSIONS: This report illustrates that core-rod congenital myopathy with foot-drop is frequently associated with NEB gene mutations and should be considered in the differential diagnosis of early onset distal myopathies.
BACKGROUND:Congenital myopathies (CM) are a group of rare inherited muscle disorders characterized by particular histopathological alterations on muscle biopsy. Core-rod myopathy is a CM presenting with cores and rods as distinctive muscle morphological features. METHODS/ RESULTS: We describe 3 young patients presenting congenital core-rod myopathy with bilateral foot-drop associated with autosomal recessive nebulin gene (NEB) mutations detected by exome sequencing. CONCLUSIONS: This report illustrates that core-rod congenital myopathy with foot-drop is frequently associated with NEB gene mutations and should be considered in the differential diagnosis of early onset distal myopathies.