| Abstract | Danon disease is a rare X-linked dominant disorder caused by lysosomal-associated membrane protein 2 (LAMP2) deficiency and is characterized by hypertrophic cardiomyopathy, cardiac conduction abnormalities, skeletal vacuolar myopathy, variable degree of mental retardation, and peripheral pigmentary retinopathy. We describe a novel splice mutation in the LAMP2 gene in a French Canadian family. By identifying this novel mutation we were able to offer genetic screening and counseling to all family members. Presymptomatic diagnosis is important as cardiac surveillance can be life-saving. |
| Authors | Amelie Nadeau, Christian Therrien, George Karpati, Michael Sinnreich
(Affiliation: Neuromuscular Research Group, Montreal Neurological Institute and Hospital, 3801 University Street, Montreal, Quebec H3A 2B4, Canada.)
|
| Journal | Muscle & nerve
(Muscle Nerve)
Vol. 37
Issue 3
Pg. 338-42
(Mar 2008)
ISSN: 0148-639X United States |
| PMID | 18004770
(Publication Type: Journal Article)
|
| Chemical References |
- Lysosomal-Associated Membrane Protein 2
|
| Topics |
- Adult
- Aged
- DNA Mutational Analysis
(methods)
- Exons
(genetics)
- Family Health
- Female
- Glycogen Storage Disease Type IIb
(genetics, pathology)
- Humans
- Lysosomal-Associated Membrane Protein 2
(genetics)
- Male
- Muscle, Skeletal
(pathology)
- Mutation
(genetics)
|
