La maladie de Parkinson au Canada (serveur d'exploration)

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Electrophysiological findings in X‐linked myopathy with excessive autophagy

Identifieur interne : 003026 ( Main/Exploration ); précédent : 003025; suivant : 003027

Electrophysiological 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 :

RBID : ISTEX:19E6BDD65392C0164C46641A9BA941FFDF7E1D29

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:


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