Congenital Myasthenic Syndrome with Agrin Mutations

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine
  • John J Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-28-10-5

Keywords:

Neurology, Pediatrics, Child Development, Nervous System Diseases, Brain Diseases

Abstract

Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a distal myopathy.

Downloads

Published

2014-10-01

Issue

Section

Neuromuscular Disorders