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