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X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping
Author(s) -
Auranen Mari,
Villanova Marcello,
Muntoni Francesco,
Fardeau Michel,
Scherer Stephen W.,
Kalino Hannu,
Minassian Berge A.
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200005)47:5<666::aid-ana19>3.0.co;2-n
Subject(s) - locus (genetics) , xq28 , genetics , myopathy , biology , x chromosome , cardiomyopathy , genetic linkage , allele , lod score , chromosome , gene , gene mapping , medicine , heart failure
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. Ann Neurol 2000;47:666–669