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

doi:10.1002/ana.10173

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 journal › Article › peer-review

9 Scopus citations

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 language	English (US)
Pages (from-to)	648-652
Number of pages	5
Journal	Annals of Neurology
Volume	51
Issue number	5
DOIs	https://doi.org/10.1002/ana.10173
State	Published - 2002

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/ana.10173

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AU - Jääskeläinen, Satu K.

AU - Juel, Vern C.

AU - Udd, Bjarne

AU - Villanova, Marcello

AU - Liguori, Rocco

AU - Minassian, Berge A.

AU - Falck, Björn

AU - Niemi, Pekka

AU - Kalimo, Hannu

PY - 2002

Y1 - 2002

N2 - 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.

AB - 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.

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JO - Annals of Neurology

JF - Annals of Neurology

IS - 5

ER -

Electrophysiological findings in X-linked myopathy with excessive autophagy

Abstract

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