Two children with "dropped head" syndrome due to lamin A/C mutations

Muscle Nerve. 2010 Nov;42(5):839-41. doi: 10.1002/mus.21820.

Abstract

LMNA-related congenital muscular dystrophy (L-CMD) is a recently described disorder characterized by infantile-onset myopathy due to mutations in the lamin A/C (LMNA) gene. We report the genetic and clinical characteristics of two unrelated L-CMD patients. Patient 1 harbored a novel, L35P mutation and patient 2 a previously reported R249W mutation. The striking phenotype associated with L-CMD is important to recognize, as molecular diagnostic testing can spare patients unnecessary procedures and prompt the physician to monitor for associated cardiac arrhythmias.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child, Preschool
  • Female
  • Head*
  • Humans
  • Lamin Type A / genetics*
  • Laminin / genetics*
  • Muscle Weakness
  • Muscle, Skeletal / pathology
  • Mutation / physiology
  • Neuromuscular Diseases / genetics*
  • Neuromuscular Diseases / pathology

Substances

  • Lamin Type A
  • Laminin
  • lamin C
  • laminin A