Merosin negative congenital muscular dystrophy: a short report.
Neurol India
;
2003 Sep; 51(3): 417-9
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Femelle
/
Humains
/
Laminine
/
Muscles squelettiques
/
Nourrisson
/
Dystrophies musculaires
langue:
Anglais
Texte intégral:
Neurol India
Année:
2003
Type:
Article
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