RT Journal Article
SR Electronic
T1 Merosin-deficient congenital muscular dystrophy in an Omani boy
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 305
OP 307
VO 13
IS 3
A1 Al-Futaisi, Amna
A1 Almawali, Almundher
A1 Abdwani, Raghad
A1 Rao, Vasudev T.
A1 Javad, Hashim
A1 Koul, Roshan
YR 2008
UL http://nsj.org.sa/content/13/3/305.abstract
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.