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

Mari Auranen, Marcello Villanova, Francesco Muntoni, Michel Fardeau, Stephen W. Scherer, Hannu Kalino, Berge A. Minassian

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


X-linked vacuolar myopathies can be divided into two forms: one that is associated with cardiomyopathy and mental retardation (XVCM-MR) and a second form, termed X-linked myopathy with excessive autophagy (XMEA), that spares cardiac muscle and has no central nervous system involvement. In this article, 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. We also show that XVCM-MR is not allelic to XMEA.

Original languageEnglish (US)
Pages (from-to)666-669
Number of pages4
JournalAnnals of Neurology
Issue number5
StatePublished - 2000

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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