Merosin negative congenital muscular dystrophy: a short report

Neurol India. 2003 Sep;51(3):417-9.

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.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Infant
  • Laminin / deficiency*
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology*

Substances

  • Laminin