Merosin-deficient congenital muscular dystrophy in an Omani boy

Amna Al-Futaisi, Almundher Almawali, Raghad Abdwani, Vasudev T. Rao, Hashim Javad, Roshan Koul

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)305-307
Number of pages3
JournalNeurosciences
Volume13
Issue number3
Publication statusPublished - Jul 2008

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ASJC Scopus subject areas

  • Neuroscience(all)

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