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 SHORT REPORTS
Year : 2003  |  Volume : 51  |  Issue : 3  |  Page : 417--419

Merosin negative congenital muscular dystrophy: A short report


1 Departments of Pathology, All India Institute of Medical Sciences, Ansarinagar, New Delhi - 110029, India
2 Departments of Pediatrics, All India Institute of Medical Sciences, Ansarinagar, New Delhi - 110029, India

Correspondence Address:
C Sarkar
Department of Pathology, All India Institute of Medical Sciences, Ansarinagar, New Delhi - 110029
India
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Source of Support: None, Conflict of Interest: None


PMID: 14652462

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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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Online since 20th March '04
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