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

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.

• 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)
• Copyright: Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Chemical References

• Muscle Proteins
• nebulin

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