Merosin-deficient congenital muscular dystrophy is an autosomal recessive disease that can
manifest differently in different ethnic groups. This often presents as a floppy infant, and …

We report a rare case of an infant with congenital muscular dystrophy who presented at birth
with marked generalized hypotonia and normal mental development. Creatinine …

A 6-year-old boy born by a third-degree consanguineous marriage presented with
progressive muscle weakness and delayed motor milestones noticed in early infancy with …

We report clinical, biopsy and autopsy findings in a merosin-deficient congenital muscular
dystrophy (CMD) infant with abnormal cortical gyration. Brain showed polymicrogyria and …

We report the brain magnetic resonance imaging (MRI) findings in 23 patients with merosin-
positive congenital muscular dystrophy (CMD). Twelve patients had normal scans. Eight …

Congenital muscular dystrophies (CMD) are a group of heterogeneous inherited autosomal
recessive disorders characterized by muscular weakness, hypotonia and contractures. The …

Congenital muscular dystrophies (CMD) are heterogenous group of muscle disorders with
autosomal recessive inheritance. Merosin deficiency has been identified in some patients …

Children with merosin-deficient congenital muscular dystrophy (CMD) have striking white
matter changes on T-2 weighted brain magnetic resonance imaging (MRI). There have been …

The aims of our study were: to present cases of congenital muscular dystrophy (CMD) with
deficiency in merosin and the importance of immunohistochemistry in the diagnosis of …

Twelve patients from 11 Israeli families with congenital muscular dystrophy were evaluated
between 1991 and 2001. There were six males and six females, of whom six were merosin …