Merosin negative congenital muscular dystrophy: a short report |
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| Authors: | Ralte A M Sharma M C Gulati S Das M Sarkar C |
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| Institution: | Department of Pathology, All India Institute of Medical Sciences, Ansarinagar, New Delhi - 110029, India. |
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| 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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