Merosin negative congenital muscular dystrophy: a short report.
Neurol India
;
2003 Sep; 51(3): 417-9
Artigo
em Inglês
| IMSEAR
| ID: sea-121540
ABSTRACT
We report a rare case of an infant with congenital muscular dystrophy who presented at birth with marked generalized hypotonia and normal mental development. Creatinine phosphokinase (CPK) level was markedly raised; however no white matter abnormalities were detected by brain imaging techniques. Immunohistochemical staining for merosin (laminin alpha 2) was negative, thereby confirming merosin-deficient congenital muscular dystrophy.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Laminina
/
Músculo Esquelético
/
Lactente
/
Distrofias Musculares
Idioma:
Inglês
Revista:
Neurol India
Ano de publicação:
2003
Tipo de documento:
Artigo
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