title: Merosin negative congenital muscular dystrophy: a short report.
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.
authors.affiliation: Department of Pathology, All India Institute of Medical Sciences, Ansarinagar, New Delhi - 110029, India.
authors.forename: A M
authors.initials: AM
authors.lastname: Ralte
authors.forename: M C
authors.initials: MC
authors.lastname: Sharma
authors.forename: S
authors.initials: S
authors.lastname: Gulati
authors.forename: M
authors.initials: M
authors.lastname: Das
authors.forename: C
authors.initials: C
authors.lastname: Sarkar
mesh_terms: 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*
chemical_list: D007797:Laminin