PT - JOURNAL ARTICLE AU - Al-Futaisi, Amna AU - Almawali, Almundher AU - Abdwani, Raghad AU - Rao, Vasudev T. AU - Javad, Hashim AU - Koul, Roshan TI - Merosin-deficient congenital muscular dystrophy in an Omani boy DP - 2008 Jul 01 TA - Neurosciences Journal PG - 305--307 VI - 13 IP - 3 4099 - http://nsj.org.sa/content/13/3/305.short 4100 - http://nsj.org.sa/content/13/3/305.full SO - Neurosciences (Riyadh)2008 Jul 01; 13 AB - Merosin-deficient congenital muscular dystrophy is an autosomal recessive disease that can manifest differently in different ethnic groups. This often presents as a floppy infant, and normal mental development. The creatine kinase is usually elevated with white matter abnormalities on brain imaging. In this report, we describe an infant with Merosin-deficient congenital muscular dystrophy who presented with delayed motor milestones and hypotonia. The clinical features, biopsy findings, and neuroimaging abnormalities in our patient are described.