RT Journal Article
SR Electronic
T1 Emery-Dreiffus Muscular Dystrophy: MR Imaging and Spectroscopy in the Brain and Skeletal Muscle
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1840
OP 1842
VO 25
IS 10
A1 Semnic, Robert
A1 Vucurevic, Goran
A1 Kozic, Dusko
A1 Koprivsek, Katarina
A1 Ostojic, Jelena
A1 Sener, Rifat Nuri
YR 2004
UL http://www.ajnr.org/content/25/10/1840.abstract
AB Summary: Emery-Dreifuss muscular dystrophy is a rare disorder characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. This report presents the cases of two brothers with this dystrophy in whom bilateral hypomyelination of the deep periatrial white matter was noted. In the hypomyelinated regions, a prominent peak centered at 1.5 parts per million was present on short-TE MR spectra likely representing prominence of proteolipids in the macromolecular region. Major peaks (n-acetyl-aspartate, creatine, choline, and myoinositol) were normal. With respect to muscle changes, atrophy of the medial head of the gastrocnemius muscle was noted at MR imaging, and phosphorus spectroscopy of this muscle revealed decreased phosphocreatine and inorganic phosphate peaks.