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 journalArticle

21 Citations (Scopus)

Abstract

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
Volume47
Issue number5
DOIs
StatePublished - May 25 2000

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Genetic Loci
X Chromosome
Cardiomyopathies
Genetic Markers
Intellectual Disability
Myocardium
Central Nervous System
Vacuolar myopathy
Myopathy, X-Linked, with Excessive Autophagy
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

X-linked vacuolar myopathies : Two separate loci and refined genetic mapping. / Auranen, Mari; Villanova, Marcello; Muntoni, Francesco; Fardeau, Michel; Scherer, Stephen W.; Kalino, Hannu; Minassian, Berge A.

In: Annals of Neurology, Vol. 47, No. 5, 25.05.2000, p. 666-669.

Research output: Contribution to journalArticle

Auranen, Mari ; Villanova, Marcello ; Muntoni, Francesco ; Fardeau, Michel ; Scherer, Stephen W. ; Kalino, Hannu ; Minassian, Berge A. / X-linked vacuolar myopathies : Two separate loci and refined genetic mapping. In: Annals of Neurology. 2000 ; Vol. 47, No. 5. pp. 666-669.
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