European journal of medical genetics · 2015
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Malfatti Edoardo, Monges Soledad, Lehtokari Vilma-Lotta, Schaeffer Ursula, Abath Neto Osorio, Kiiski Kirsi, Lubieniecki Fabiana, Taratuto Ana Lía, Wallgren-Pettersson Carina, Laporte Jocelyn, Romero Norma B
Аннотация
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.
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.