Laminin- α2 (merosin), β-dystroglycan, α-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: An immunohistochemical study

Abstract

Muscle biopsies of 13 congenital muscular dystrophy (CMD) patients were investigated for the expression of laminin- α 2 (merosin), β-dystroglycan, α-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- α 2 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.