Merosin-deficient congenital muscular dystrophy in an Omani boy
Neurosciences. 2008; 13 (3): 305-307
em Inglês
| 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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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Biópsia
/
Imageamento por Ressonância Magnética
/
Laminina
/
Creatina Quinase
/
Padrões de Herança
/
Eletromiografia
/
Hipotonia Muscular
/
Distrofias Musculares
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Neurosciences
Ano de publicação:
2008
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