Journal article
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy
European journal of medical genetics, Vol.58(10), pp.556-561
10/2015
DOI: 10.1016/j.ejmg.2015.09.009
PMID: 26403434
Abstract
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.
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.
Details
- Title: Subtitle
- Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy
- Creators
- Edoardo Malfatti - Université Paris CitéSoledad Monges - Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina.Vilma-Lotta Lehtokari - University of HelsinkiUrsula Schaeffer - Université de StrasbourgOsorio Abath Neto - PathologyKirsi Kiiski - University of HelsinkiFabiana Lubieniecki - Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina.Ana Lía Taratuto - Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina.Carina Wallgren-Pettersson - University of HelsinkiJocelyn Laporte - Université de StrasbourgNorma B Romero - Université Paris Cité
- Resource Type
- Journal article
- Publication Details
- European journal of medical genetics, Vol.58(10), pp.556-561
- Publisher
- Elsevier Masson SAS
- DOI
- 10.1016/j.ejmg.2015.09.009
- PMID
- 26403434
- ISSN
- 1769-7212
- eISSN
- 1878-0849
- Language
- English
- Date published
- 10/2015
- Academic Unit
- Pathology
- Record Identifier
- 9984276453102771
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