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

doi:10.1002/1531-8249(200005)47:5<666::AID-ANA19>3.0.CO;2-N

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

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23 Scopus citations

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 language	English (US)
Pages (from-to)	666-669
Number of pages	4
Journal	Annals of Neurology
Volume	47
Issue number	5
DOIs	https://doi.org/10.1002/1531-8249(200005)47:5<666::AID-ANA19>3.0.CO;2-N
State	Published - 2000

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/1531-8249(200005)47:5<666::AID-ANA19>3.0.CO;2-N

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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.",

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T1 - X-linked vacuolar myopathies

T2 - Two separate loci and refined genetic mapping

AU - Auranen, Mari

AU - Villanova, Marcello

AU - Muntoni, Francesco

AU - Fardeau, Michel

AU - Scherer, Stephen W.

AU - Kalino, Hannu

AU - Minassian, Berge A.

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

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