| Abstract | We report a 46-year-old male patient with late-onset vacuolar myopathy and dilated cardiomyopathy. Acid maltase activity of the muscle was normal, but the biopsied muscle specimen stained for lysosome-associated membrane protein-2 (LAMP-2), which has recently been reported to be deficient in muscles of patients with Danon disease. The clinical features of the patient are distinct from X-linked myopathy with excessive autophagy, infantile autophagic vacuolar myopathy and autophagic vacuolar myopathy with late-onset and multiorgan involvement (Kaneda). |
| Authors | Seiichiro Sugimoto
(Affiliation: Department of Neurology, National Hospital Organization, Miyazaki Higashi Hospital, Miyazaki, Japan. sugimoto-s at fc.med.miyazaki-u.ac.jp)
|
| Journal | Autophagy
(Autophagy)
2007 Nov-Dec
Vol. 3
Issue 6
Pg. 638-9
ISSN: 1554-8627 United States |
| PMID | 17873513
(Publication Type: Case Reports, Journal Article)
|
| Chemical References |
- LAMP2 protein, human
- Lysosome-Associated Membrane Glycoproteins
|
| Topics |
- Cardiomyopathy, Dilated
(complications, diagnosis, pathology)
- Diagnosis, Differential
- Genetic Diseases, X-Linked
(diagnosis)
- Glycogen Storage Disease Type IIb
(diagnosis)
- Humans
- Lysosome-Associated Membrane Glycoproteins
(metabolism)
- Male
- Middle Aged
- Muscle, Skeletal
(metabolism, pathology, surgery)
- Muscular Diseases
(complications, diagnosis, metabolism)
- Myopathies, Structural, Congenital
(diagnosis)
|
