A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease

Muscle Nerve. 2010 Jun;41(6):879-82. doi: 10.1002/mus.21614.

Abstract

Danon disease is caused by deficiency of lysosome-associated membrane protein-2 (LAMP-2). It is characterized clinically by cardiomyopathy, myopathy, and mental retardation in boys. Herein we report a 13-year-old female patient with Danon disease who presented with early-onset skeletal myopathy and cardiomyopathy. She had a de novo novel mutation in the LAMP2 gene, and her muscles showed many autophagic vacuoles with sarcolemmal features and complete absence of LAMP-2 expression. To the best of our knowledge, this girl is one of the earliest-onset manifesting carriers of Danon disease with typical muscle pathology.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age of Onset
  • Amino Acid Sequence
  • Base Sequence
  • Cardiomyopathy, Hypertrophic / etiology*
  • Cardiomyopathy, Hypertrophic / pathology
  • Female
  • Glycogen Storage Disease Type IIb / diagnosis*
  • Glycogen Storage Disease Type IIb / genetics
  • Glycogen Storage Disease Type IIb / pathology
  • Humans
  • Lysosomal Membrane Proteins / genetics
  • Lysosomal-Associated Membrane Protein 2
  • Male
  • Molecular Sequence Data
  • Muscle Weakness / etiology*
  • Muscle Weakness / pathology
  • Muscle, Skeletal / pathology
  • Mutation
  • Reference Values
  • Vacuoles / pathology

Substances

  • LAMP2 protein, human
  • Lysosomal-Associated Membrane Protein 2
  • Lysosomal Membrane Proteins