Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2813846 | European Journal of Medical Genetics | 2015 | 6 Pages |
Abstract
BackgroundCongenital 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.ConclusionsThis 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.
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Authors
Edoardo Malfatti, Soledad Monges, Vilma-Lotta Lehtokari, Ursula Schaeffer, Osorio Abath Neto, Kirsi Kiiski, Fabiana Lubieniecki, Ana Lía Taratuto, Carina Wallgren-Pettersson, Jocelyn Laporte, Norma B. Romero,