Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2006-3-27
pubmed:abstractText
Lysosome-associated membrane protein-2 deficiency (LAMP-2 deficiency), or Danon disease, is a rare X-linked lysosomal disease characterized by cardiomyopathy, vacuolar myopathy, and mental retardation. Less than 20 families with mutations of the Lamp-2 gene have been reported. We describe a family from Sardinia with eight affected patients (4 females and 4 males) and a novel mutation in exon 2 of the Lamp-2 gene (c.102_103delAG). Females developed isolated cardiomyopathy in adulthood, whereas males presented with cardiomyopathy, myopathy, and mental retardation before the age of 20 years. Cardiomyopathy was lethal in three females in their 40s and in three males before the age 20 years. One patient was successfully treated by heart transplantation with more than 5-year follow-up. This study demonstrates that Danon disease is a frequently fatal condition that is potentially treatable with heart transplantation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0148-639X
pubmed:author
pubmed:copyrightInfo
Muscle Nerve, 2006.
pubmed:issnType
Print
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
393-7
pubmed:meshHeading
pubmed-meshheading:16372318-Adult, pubmed-meshheading:16372318-Atrophy, pubmed-meshheading:16372318-Blotting, Western, pubmed-meshheading:16372318-Brain Diseases, pubmed-meshheading:16372318-Cardiomyopathy, Dilated, pubmed-meshheading:16372318-Creatine Kinase, pubmed-meshheading:16372318-DNA, pubmed-meshheading:16372318-Defibrillators, Implantable, pubmed-meshheading:16372318-Electromyography, pubmed-meshheading:16372318-Fatal Outcome, pubmed-meshheading:16372318-Female, pubmed-meshheading:16372318-Glycogen Storage Disease Type IIb, pubmed-meshheading:16372318-Heart Transplantation, pubmed-meshheading:16372318-Humans, pubmed-meshheading:16372318-Immunohistochemistry, pubmed-meshheading:16372318-Lysosome-Associated Membrane Glycoproteins, pubmed-meshheading:16372318-Magnetic Resonance Imaging, pubmed-meshheading:16372318-Male, pubmed-meshheading:16372318-Muscle, Skeletal, pubmed-meshheading:16372318-Mutation
pubmed:year
2006
pubmed:articleTitle
Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.
pubmed:affiliation
Département de Neurologie, Hôpital Civil, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France. echaniz-laguna@medecine.u-strasbg.fr
pubmed:publicationType
Journal Article, Case Reports