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PT  - JOURNAL ARTICLE
AU  - Semnic, Robert
AU  - Vucurevic, Goran
AU  - Kozic, Dusko
AU  - Koprivsek, Katarina
AU  - Ostojic, Jelena
AU  - Sener, Rifat Nuri
TI  - Emery-Dreiffus Muscular Dystrophy: MR Imaging and Spectroscopy in the Brain and Skeletal Muscle
DP  - 2004 Nov 01
TA  - American Journal of Neuroradiology
PG  - 1840--1842
VI  - 25
IP  - 10
4099  - http://www.ajnr.org/content/25/10/1840.short
4100  - http://www.ajnr.org/content/25/10/1840.full
SO  - Am. J. Neuroradiol.2004 Nov 01; 25
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.