Merosin-deficient congenital muscular dystrophy in an Omani boy
Neurosciences. 2008; 13 (3): 305-307
in English
| IMEMR
| ID: emr-89250
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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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Biopsy
/
Magnetic Resonance Imaging
/
Laminin
/
Creatine Kinase
/
Inheritance Patterns
/
Electromyography
/
Muscle Hypotonia
/
Muscular Dystrophies
Type of study:
Case report
Limits:
Humans
/
Male
Language:
English
Journal:
Neurosciences
Year:
2008
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