Electrophysiological findings in X-linked myopathy with excessive autophagy

Satu K. Jääskeläinen, Vern C. Juel, Bjarne Udd, Marcello Villanova, Rocco Liguori, Berge A. Minassian, Björn Falck, Pekka Niemi, Hannu Kalimo

Research output: Contribution to journalArticle

8 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)648-652
Number of pages5
JournalAnnals of Neurology
Volume51
Issue number5
DOIs
Publication statusPublished - 2002

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Muscles
Muscular Diseases
Thigh
Extremities
Magnetic Resonance Imaging
Myopathy, X-Linked, with Excessive Autophagy

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Jääskeläinen, S. K., Juel, V. C., Udd, B., Villanova, M., Liguori, R., Minassian, B. A., ... Kalimo, H. (2002). Electrophysiological findings in X-linked myopathy with excessive autophagy. Annals of Neurology, 51(5), 648-652. https://doi.org/10.1002/ana.10173

Electrophysiological findings in X-linked myopathy with excessive autophagy. / Jääskeläinen, Satu K.; Juel, Vern C.; Udd, Bjarne; Villanova, Marcello; Liguori, Rocco; Minassian, Berge A.; Falck, Björn; Niemi, Pekka; Kalimo, Hannu.

In: Annals of Neurology, Vol. 51, No. 5, 2002, p. 648-652.

Research output: Contribution to journalArticle

Jääskeläinen, SK, Juel, VC, Udd, B, Villanova, M, Liguori, R, Minassian, BA, Falck, B, Niemi, P & Kalimo, H 2002, 'Electrophysiological findings in X-linked myopathy with excessive autophagy', Annals of Neurology, vol. 51, no. 5, pp. 648-652. https://doi.org/10.1002/ana.10173
Jääskeläinen SK, Juel VC, Udd B, Villanova M, Liguori R, Minassian BA et al. Electrophysiological findings in X-linked myopathy with excessive autophagy. Annals of Neurology. 2002;51(5):648-652. https://doi.org/10.1002/ana.10173
Jääskeläinen, Satu K. ; Juel, Vern C. ; Udd, Bjarne ; Villanova, Marcello ; Liguori, Rocco ; Minassian, Berge A. ; Falck, Björn ; Niemi, Pekka ; Kalimo, Hannu. / Electrophysiological findings in X-linked myopathy with excessive autophagy. In: Annals of Neurology. 2002 ; Vol. 51, No. 5. pp. 648-652.
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