Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study

Neuromuscul Disord. 1999 Mar;9(2):86-94. doi: 10.1016/s0960-8966(98)00112-6.


We report clinical, biopsy and autopsy findings in a merosin-deficient congenital muscular dystrophy (CMD) infant with abnormal cortical gyration. Brain showed polymicrogyria and occipital agyria with marginal neuroglial heterotopia and inferior vermis hypoplasia. There was a normal pattern of myelination consistent with early age. Laminin alpha 2 chain was also absent in myocardium, brain pial-glial membrane, brain and skin blood vessels as well as intramuscular and skin nerves. Occasional basal lamina gaps were found in muscle fibres but not in brain-blood vessels. This is the first autopsy study in a merosin-deficient CMD case with abnormal cortical gyration.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autopsy
  • Biopsy
  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / diagnostic imaging
  • Humans
  • Infant
  • Laminin / deficiency*
  • Male
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / physiopathology*
  • Tomography, X-Ray Computed


  • Laminin