X-linked vacuolar myopathies: Two separate loci and refined genetic mapping

Citation
M. Auranen et al., X-linked vacuolar myopathies: Two separate loci and refined genetic mapping, ANN NEUROL, 47(5), 2000, pp. 666-669
Citations number
23
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
ANNALS OF NEUROLOGY
ISSN journal
03645134 → ACNP
Volume
47
Issue
5
Year of publication
2000
Pages
666 - 669
Database
ISI
SICI code
0364-5134(200005)47:5<666:XVMTSL>2.0.ZU;2-J
Abstract
X-linked vacuolar myopathies can be divided into two forms: one that is ass ociated with cardiomyopathy and mental retardation (XVCM-MR) and a second f orm, termed X-linked myopathy with excessive autophagy (XMEA), that spares cardiac muscle and has no central nervous system involvement. In this artic le, we demonstrate linkage between XMEA and markers on chromosome Xq28 and assign the XMEA gene locus to the most telomeric 10.5 cM of chromosome X. W e also show that XVCM-MR is not allelic to XMEA.