Linked Life Data

20513107

Source:http://linkedlifedata.com/resource/pubmed/id/20513107

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2010-5-31
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1097-4598
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
41
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
879-82
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.
pubmed:affiliation
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea, 110-744.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't