Abstract | 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.
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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 |
Journal | European journal of medical genetics
(Eur J Med Genet)
Vol. 58
Issue 10
Pg. 556-61
(Oct 2015)
ISSN: 1878-0849 [Electronic] Netherlands |
PMID | 26403434
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2015 Elsevier Masson SAS. All rights reserved. |
Chemical References |
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Topics |
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Child
- Exome
- Female
- Gait Disorders, Neurologic
(diagnosis, genetics)
- Humans
- Male
- Molecular Sequence Data
- Muscle Proteins
(genetics)
- Mutation
- Myopathies, Structural, Congenital
(diagnosis, genetics)
- Young Adult
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