LAMININ-ALPHA(2) (MEROSIN), BETA-DYSTROGLYCAN, ALPHA-SARCOGLYCAN (ADHALIN), AND DYSTROPHIN EXPRESSION IN CONGENITAL MUSCULAR-DYSTROPHIES - AN IMMUNOHISTOCHEMICAL STUDY

Muscle biopsies of 13 congenital muscular dystrophy (CMD) patients wer e investigated for the expression of laminin-alpha(2) (merosin), beta- dystroglycan, alpha-sarcoglycan (adhalin) and dystrophin. Expression o f 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 dec reased laminin-alpha(2) expression and normal expression of the other proteins. Our findings in the non-Japanese patients, clinically resemb ling F-CMD, are different from those in Japanese cases with F-CMD in t he literature. Consequently, our patients suffer from WWS or from anot her yet undetermined form of CMD. (C) 1998 Elsevier Science B.V. All r ights reserved.