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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Neuroimaging
Muscle Hypotonia
Creatine Kinase
Ethnic Groups
Biopsy
Merosin negative Muscular dystrophy congenital
White Matter

ASJC Scopus subject areas

  • Neuroscience(all)

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Merosin-deficient congenital muscular dystrophy in an Omani boy. / Al-Futaisi, Amna; Almawali, Almundher; Abdwani, Raghad; Rao, Vasudev T.; Javad, Hashim; Koul, Roshan.

In: Neurosciences, Vol. 13, No. 3, 07.2008, p. 305-307.

Research output: Contribution to journalArticle

Al-Futaisi, Amna ; Almawali, Almundher ; Abdwani, Raghad ; Rao, Vasudev T. ; Javad, Hashim ; Koul, Roshan. / Merosin-deficient congenital muscular dystrophy in an Omani boy. In: Neurosciences. 2008 ; Vol. 13, No. 3. pp. 305-307.
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