Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: an immunohistochemical study

Clin Neurol Neurosurg. 1998 Mar;100(1):5-10. doi: 10.1016/s0303-8467(97)00109-1.

Abstract

Muscle biopsies of 13 congenital muscular dystrophy (CMD) patients were investigated for the expression of laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin) and dystrophin. Expression of these proteins was normal in six out of eight patients with pure-CMD, in three non-Japanese patients clinically resembling Fukuyama-CMD (F-CMD), and in two patients with Walker-Warburg syndrome (WWS). The two 'pure'-CMD patients with white matter hypodensity showed severely decreased laminin-alpha2 expression and normal expression of the other proteins. Our findings in the non-Japanese patients, clinically resembling F-CMD, are different from those in Japanese cases with F-CMD in the literature. Consequently, our patients suffer from WWS or from another yet undetermined form of CMD.

MeSH terms

  • Basement Membrane / chemistry
  • Child
  • Child, Preschool
  • Cytoskeletal Proteins / biosynthesis*
  • Dystroglycans
  • Dystrophin / biosynthesis*
  • Female
  • Humans
  • Immunohistochemistry
  • Infant
  • Infant, Newborn
  • Laminin / biosynthesis*
  • Male
  • Membrane Glycoproteins / biosynthesis*
  • Muscle, Skeletal / chemistry
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / metabolism*
  • Sarcoglycans

Substances

  • Cytoskeletal Proteins
  • DAG1 protein, human
  • Dystrophin
  • Laminin
  • Membrane Glycoproteins
  • Sarcoglycans
  • Dystroglycans