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Electrophysiological findings in X-linked myopathy with excessive autophagy

Lookup NU author(s): Emerita Professor Katherine Bushby, Solene Lefebvre

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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.

Publication metadata

Author(s): Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P, Zarhrate M, Vial E, Dessainte M, Estournet B, Kleinknecht B, Pearn J, Adams RD, Urtizberea JA, Cros DP, Bushby K, Munnich A, Lefebvre S

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2002

Volume: 51

Issue: 5

Pages: 648-652

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/ana.10173

DOI: 10.1002/ana.10173

PubMed id: 12112116

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