[Congenital Muscular Dystrophy With Merosin Deficiency: Clinical, Histopathological, Immunocytochemical and Genetic Analysis]

Rev Neurol (Paris). 1996 Jan;152(1):11-9.
[Article in French]

Abstract

A selective deficiency of a specific laminin isovariant, merosin made of M, B1 and B2 chains, was found in a series of 17 patients affected with congenital muscular dystrophy (CMD). The merosin deficiency was complete in 15 cases, and almost complete in two cases. An overexpression of the laminin A chain was seen in these biopsies, while B1 and B2 chains were normally expressed. Comparison of the clinical data with a series of 18 "merosin-non deficient" cases showed that the "merosin-deficient" cases were forming a more homogenous group than the "non-deficient" one. Hypotonia, contractures, motor development delay were generally more severe in the "merosin-deficient" series of cases. Moreover, white matter alterations were seen in most cases explored by MRI or scan imaging. A genetic linkage with a 6q2 locus, corresponding to the M chain gene localization, was found in a panel of informative families from French and Turkish origin with "merosin deficient" CMD. "Merosin non-deficient" families did not map on this locus. So, the "merosin-deficient" CMD can be considered as a peculiar entity within the group of Congenital Muscular Dystrophies.

Publication types

  • Comparative Study
  • English Abstract

MeSH terms

  • Biopsy
  • Female
  • Follow-Up Studies
  • Humans
  • Immunohistochemistry
  • Infant, Newborn
  • Laminin / chemistry
  • Laminin / deficiency*
  • Laminin / genetics
  • Male
  • Muscles / pathology*
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / pathology

Substances

  • Laminin