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Case ReportCASE REPORTS
Open Access

Merosin-deficient congenital muscular dystrophy in an Omani boy

Amna Al-Futaisi, Almundher Almawali, Raghad Abdwani, Vasudev T. Rao, Hashim Javad and Roshan Koul
Neurosciences Journal July 2008, 13 (3) 305-307;
Amna Al-Futaisi
Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
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Almundher Almawali
Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
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Raghad Abdwani
Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
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Vasudev T. Rao
Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
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Hashim Javad
Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
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Roshan Koul
Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
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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.

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Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.

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Neurosciences Journal: 13 (3)
Neurosciences Journal
Vol. 13, Issue 3
1 Jul 2008
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Merosin-deficient congenital muscular dystrophy in an Omani boy
Amna Al-Futaisi, Almundher Almawali, Raghad Abdwani, Vasudev T. Rao, Hashim Javad, Roshan Koul
Neurosciences Journal Jul 2008, 13 (3) 305-307;

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Merosin-deficient congenital muscular dystrophy in an Omani boy
Amna Al-Futaisi, Almundher Almawali, Raghad Abdwani, Vasudev T. Rao, Hashim Javad, Roshan Koul
Neurosciences Journal Jul 2008, 13 (3) 305-307;
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© 2025 Neurosciences Journal Neurosciences is copyright under the Berne Convention and the International Copyright Convention. All rights reserved. Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3183. Print ISSN 1319-6138.

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