Merosin negative congenital muscular dystrophy: a short report.

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2003-09-04
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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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Ralte AM, Sharma MC, Gulati S, Das M, Sarkar C. Merosin negative congenital muscular dystrophy: a short report. Neurology India. 2003 Sep; 51(3): 417-9
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