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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Chemla, JC; Kanter, RJ; Carboni, MP; Smith, EC

Published Date

  • November 2010

Published In

Volume / Issue

  • 42 / 5

Start / End Page

  • 839 - 841

PubMed ID

  • 20886652

Electronic International Standard Serial Number (EISSN)

  • 1097-4598

Digital Object Identifier (DOI)

  • 10.1002/mus.21820

Language

  • eng

Conference Location

  • United States