1.
Neurosciences. 2008; 13 (3): 305-307
em Inglês
| IMEMR
| ID: emr-89250
RESUMO
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
Assuntos
Humanos , Masculino , Padrões de Herança , Hipotonia Muscular , Distrofias Musculares/diagnóstico , Laminina , Biópsia , Imageamento por Ressonância Magnética , Creatina Quinase , Eletromiografia
2.
SQUMJ-Sultan Qaboos University Medical Journal. 2007; 7 (2): 91-93
em Inglês
| IMEMR
| ID: emr-85292