Electrophysiological findings in X‐linked myopathy with excessive autophagy
Identifieur interne : 003026 ( Main/Exploration ); précédent : 003025; suivant : 003027Electrophysiological findings in X‐linked myopathy with excessive autophagy
Auteurs : Satu K. J Skel Inen [Finlande] ; Vern C. Juel [États-Unis] ; Bjarne Udd [Finlande] ; Marcello Villanova [Italie] ; Rocco Liguori [Italie] ; Berge A. Minassian [Canada] ; Björn Falck [Finlande] ; Pekka Niemi [Finlande] ; Hannu Kalimo [Finlande]Source :
- Annals of Neurology [ 0364-5134 ] ; 2002-05.
Abstract
We report electrophysiological features and magnetic resonance imaging muscle findings in 4 patients and 1 female carrier of X‐linked myopathy with excessive autophagy. Motor units were polyphasic with high mean amplitude and normal duration. The thigh muscles were most severely involved, but myotonic discharges were abundant in both clinically affected and unaffected muscles. Along with the clinicopathological features, these electrophysiological findings distinguish X‐linked myopathy with excessive autophagy from other limb‐girdle myopathies.
Url:
DOI: 10.1002/ana.10173
Affiliations:
- Canada, Finlande, Italie, États-Unis
- Finlande occidentale, Ontario, Virginie
- Toronto, Turku
- Université de Toronto
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Le document en format XML
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<front><div type="abstract" xml:lang="en">We report electrophysiological features and magnetic resonance imaging muscle findings in 4 patients and 1 female carrier of X‐linked myopathy with excessive autophagy. Motor units were polyphasic with high mean amplitude and normal duration. The thigh muscles were most severely involved, but myotonic discharges were abundant in both clinically affected and unaffected muscles. Along with the clinicopathological features, these electrophysiological findings distinguish X‐linked myopathy with excessive autophagy from other limb‐girdle myopathies.</div>
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