Merosin negative congenital muscular dystrophy: a short report.
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.
Ralte
A M
AM
Department of Pathology, All India Institute of Medical Sciences, Ansarinagar, New Delhi - 110029, India.
Sharma
M C
MC
Gulati
S
S
Das
M
M
Sarkar
C
C
D005260:Female; D006801:Humans; D007223:Infant; D007797:Laminin / Q000172:deficiency*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000378:metabolism* / Q000473:pathology*
D007797:Laminin