CONGENITAL MUSCULAR-DYSTROPHY WITH PARTIAL DEFICIENCY OF MEROSIN

We present a Japanese patient who has congenital muscular dystrophy wi th partial merosin deficiency. The patient had characteristic findings of clinical features and brain MRI. Muscle biopsy showed advanced mus cular dystrophy, with greatly reduced muscle fibers and massive infilt ration of interstitial connective and fatty tissues. On immunostaining for cytoskeletal proteins, merosin was greatly reduced. The other cyt oskeletal proteins, including dystrophin and 50 kDa alpha-sarcoglycan were normally expressed around all muscle fibers. (C) 1997 Elsevier Sc ience B.V.