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

作者：Malfatti Edoardo; Monges Soledad; Lehtokari Vilma Lotta; Schaeffer Ursula; Neto Osorio Abath; Kiiski Kirsi; Lubieniecki Fabiana; Lia Taratuto Ana; Wallgren Pettersson Carina; Laporte Jocelyn; Romero Norma B^*

来源：European Journal of Medical Genetics, 2015, 58(10): 556-561.

DOI：10.1016/j.ejmg.2015.09.009

• Congenital myopathies
• Core-rod myopathies
• Nebulin
• Distal myopathies
• Foot drop

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.

• 出版日期2015-10