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 language | English |
---|---|
Pages (from-to) | 305-307 |
Number of pages | 3 |
Journal | Neurosciences |
Volume | 13 |
Issue number | 3 |
Publication status | Published - Jul 2008 |
ASJC Scopus subject areas
- Clinical Neurology
- Psychiatry and Mental health