PT - JOURNAL ARTICLE AU - Robert Semnic AU - Goran Vucurevic AU - Dusko Kozic AU - Katarina Koprivsek AU - Jelena Ostojic AU - Rifat Nuri Sener 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.