Infantile autophagic vacuolar myopathy is distinct from Danon disease

Citation
A. Yamamoto et al., Infantile autophagic vacuolar myopathy is distinct from Danon disease, NEUROLOGY, 57(5), 2001, pp. 903-905
Citations number
8
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
0028-3878 → ACNP
Volume
57
Issue
5
Year of publication
2001
Pages
903 - 905
Database
ISI
SICI code
0028-3878(20010911)57:5<903:IAVMID>2.0.ZU;2-C
Abstract
Lysosomal glycogen storage disease with normal acid maltase (Danon) is caus ed by primary lysosome-associated membrane protein-2 (LAMP-2) deficiency. T ypically, the disease begins after the first decade; however, two infantile patients had similar histologic features. The infantile disorder is distin ct from Danon disease, because, in both infants, LAMP-2 protein is present in skeletal muscle. Deposition of C5b-9 and multilayered basal lamina in on e patient suggest that the infantile disease is pathogenically similar to X -linked myopathy with excessive autophagy.