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.