Electrophysiological findings in X-linked myopathy with excessive autophagy.
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.
Jääskeläinen
Satu K
SK
Department of Clinical Neurophysiology, University Central Hospital, Turku, Finland. satu.jaaskelainen@tyks.fi
Juel
Vern C
VC
Udd
Bjarne
B
Villanova
Marcello
M
Liguori
Rocco
R
Minassian
Berge A
BA
Falck
Björn
B
Niemi
Pekka
P
Kalimo
Hannu
H
D000293:Adolescent; D000328:Adult; D001343:Autophagy / Q000235:genetics*; D004576:Electromyography; D004594:Electrophysiology; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D014617:Vacuoles / Q000235:genetics / Q000473:pathology; D014960:X Chromosome