Congenital muscular dystrophy with partial deficiency of merosin

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Abstract

We present a Japanese patient who has congenital muscular dystrophy with partial merosin deficiency. The patient had characteristic findings of clinical features and brain MRI. Muscle biopsy showed advanced muscular dystrophy, with greatly reduced muscle fibers and massive infiltration of interstitial connective and fatty tissues. On immunostaining for cytoskeletal proteins, merosin was greatly reduced. The other cytoskeletal proteins, including dystrophin and 50 kDa α-sarcoglycan were normally expressed around all muscle fibers.

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Discussion

We describe a Japanese patient with CMD and partial merosin deficiency by clinical features and immunohistochemistry of biopsied muscle. Merosin-deficient CMD patients tend to have severe hypotonia after birth; many do not achieve ambulation. High density abnormality in the white matter on MRI is an important feature for differential diagnosis (Sunada et al., 1995a). Our patient is similar to the previously reported patients with merosin-deficient CMD. By immunostaining using anti-merosin

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