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.
Department of Clinical Neurophysiology, University Central Hospital, Turku, Finland. satu.jaaskelainen@tyks.fi
Satu K
SK
Jääskeläinen
Vern C
VC
Juel
Bjarne
B
Udd
Marcello
M
Villanova
Rocco
R
Liguori
Berge A
BA
Minassian
Björn
B
Falck
Pekka
P
Niemi
Hannu
H
Kalimo
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