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Electrophysiological findings in X-linked myopathy with excessive autophagy.

Publication ,  Journal Article
Jääskeläinen, SK; Juel, VC; Udd, B; Villanova, M; Liguori, R; Minassian, BA; Falck, B; Niemi, P; Kalimo, H
Published in: Ann Neurol
May 2002

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.

Duke Scholars

Published In

Ann Neurol

DOI

ISSN

0364-5134

Publication Date

May 2002

Volume

51

Issue

5

Start / End Page

648 / 652

Location

United States

Related Subject Headings

  • X Chromosome
  • Vacuoles
  • Neurology & Neurosurgery
  • Muscular Diseases
  • Middle Aged
  • Male
  • Magnetic Resonance Imaging
  • Humans
  • Genetic Linkage
  • Female
 

Citation

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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. Ann Neurol, 51(5), 648–652. https://doi.org/10.1002/ana.10173
Jääskeläinen, Satu K., Vern C. Juel, Bjarne Udd, Marcello Villanova, Rocco Liguori, Berge A. Minassian, Björn Falck, Pekka Niemi, and Hannu Kalimo. “Electrophysiological findings in X-linked myopathy with excessive autophagy.Ann Neurol 51, no. 5 (May 2002): 648–52. 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. Ann Neurol. 2002 May;51(5):648–52.
Jääskeläinen, Satu K., et al. “Electrophysiological findings in X-linked myopathy with excessive autophagy.Ann Neurol, vol. 51, no. 5, May 2002, pp. 648–52. Pubmed, doi:10.1002/ana.10173.
Jääskeläinen SK, Juel VC, Udd B, Villanova M, Liguori R, Minassian BA, Falck B, Niemi P, Kalimo H. Electrophysiological findings in X-linked myopathy with excessive autophagy. Ann Neurol. 2002 May;51(5):648–652.
Journal cover image

Published In

Ann Neurol

DOI

ISSN

0364-5134

Publication Date

May 2002

Volume

51

Issue

5

Start / End Page

648 / 652

Location

United States

Related Subject Headings

  • X Chromosome
  • Vacuoles
  • Neurology & Neurosurgery
  • Muscular Diseases
  • Middle Aged
  • Male
  • Magnetic Resonance Imaging
  • Humans
  • Genetic Linkage
  • Female