Asymptomatic young man with Danon disease Academic Article uri icon

Overview

MeSH Major

  • Glycogen Storage Disease Type IIb
  • Hypertrophy, Left Ventricular

abstract

  • Danon disease is a rare, codominant X-linked genetic disorder characterized by the triad of left ventricular hypertrophy, mental retardation, and peripheral myopathy. This disease is caused by mutations in the gene that encodes lysosomal associated membrane protein 2 (LAMP2), a deficiency of which results in the accumulation of autophagic granular d├ębris within the vacuoles of muscle cells. This is a report of an asymptomatic 19-year-old man with Danon disease in the absence of mental retardation or clinically significant skeletal myopathy. This case underscores the importance of accurate diagnosis of unexplained left ventricular hypertrophy, in order to establish an appropriate treatment plan and to advise genetic counseling.

publication date

  • January 2014

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC4060354

Digital Object Identifier (DOI)

  • 10.14503/THIJ-13-3279

PubMed ID

  • 24955057

Additional Document Info

start page

  • 332

end page

  • 4

volume

  • 41

number

  • 3