Merosin negative congenital muscular dystrophy: a short report.
Neurol India
; 2003 Sep; 51(3): 417-9
Article
in En
| 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.
Full text:
1
Index:
IMSEAR
Main subject:
Female
/
Humans
/
Laminin
/
Muscle, Skeletal
/
Infant
/
Muscular Dystrophies
Language:
En
Journal:
Neurol India
Year:
2003
Type:
Article