ملخص
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.
اللغة الأصلية | English |
---|---|
الصفحات (من إلى) | 305-307 |
عدد الصفحات | 3 |
دورية | Neurosciences |
مستوى الصوت | 13 |
رقم الإصدار | 3 |
حالة النشر | Published - يوليو 2008 |
ASJC Scopus subject areas
- ???subjectarea.asjc.2700.2728???
- ???subjectarea.asjc.2700.2738???