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

Eur J Med Genet. 2015 Oct;58(10):556-61. doi: 10.1016/j.ejmg.2015.09.009. Epub 2015 Sep 25.

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.

Keywords: Congenital myopathies; Core-rod myopathies; Distal myopathies; Foot drop; Nebulin.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Exome
  • Female
  • Gait Disorders, Neurologic / diagnosis
  • Gait Disorders, Neurologic / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Muscle Proteins / genetics*
  • Mutation
  • Myopathies, Structural, Congenital / diagnosis*
  • Myopathies, Structural, Congenital / genetics
  • Young Adult

Substances

  • Muscle Proteins
  • nebulin