X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping
Identifieur interne : 000295 ( France/Analysis ); précédent : 000294; suivant : 000296X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping
Auteurs : Mari Auranen [Finlande] ; Marcello Villanova [Italie] ; Francesco Muntoni [Royaume-Uni] ; Michel Fardeau [France] ; Stephen W. Scherer [Canada] ; Hannu Kalino [Finlande] ; Berge A. Minassian [Canada, Finlande]Source :
- Annals of Neurology [ 0364-5134 ] ; 2000-05.
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. Ann Neurol 2000;47:666–669
Url:
DOI: 10.1002/1531-8249(200005)47:5<666::AID-ANA19>3.0.CO;2-N
Affiliations:
- Canada, Finlande, France, Italie, Royaume-Uni
- Finlande occidentale, Ontario, Île-de-France
- Paris, Toronto, Turku
- Université de Toronto
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002976
- to stream Istex, to step Curation: 002976
- to stream Istex, to step Checkpoint: 001145
- to stream Main, to step Merge: 003952
- to stream Main, to step Curation: 003424
- to stream Main, to step Exploration: 003424
- to stream France, to step Extraction: 000295
Links to Exploration step
ISTEX:D8E7A1D38359F4ECAE6459A3E27BC0F35B5D8809Le document en format XML
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