Desmin mutation responsible for idiopathic dilated cardiomyopathy Academic Article uri icon

Overview

MeSH Major

  • Cardiomyopathy, Dilated
  • Desmin
  • Mutation, Missense

abstract

  • A novel missense mutation of desmin, Ile451Met, was identified as the genetic cause of idiopathic dilated cardiomyopathy. This finding is of particular significance because this is the first mutation detected in the desmin tail domain, and the function of the desmin tail remains unknown. Because this mutation leads to a restricted cardiac phenotype in the family studied in the present report, it suggests that the tail of desmin plays an important functional role in cardiac tissue.

publication date

  • August 3, 1999

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed ID

  • 10430757

Additional Document Info

start page

  • 461

end page

  • 4

volume

  • 100

number

  • 5