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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 0028-3886
Vol. 51, No. 3, 2003, pp. 417-418 		Bioline Code: ni03140
Full paper language: English
Document type: Research Article
Document available free of charge

Neurology India, Vol. 51, No. 3, 2003, pp. 417-418

 en Merosin negative congenital muscular dystrophy: A short report
Ralte AM, Sharma MC, Gulati S, Das M, Sarkar C

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.

 
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