Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

European journal of medical genetics 2015 Oct

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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. 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. 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. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Citation

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. Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. European journal of medical genetics. 2015 Oct;58(10):556-61