Muscular dystrophy congenital, merosin negative

Known as: Muscular Dystrophy, Congenital Merosin-Deficient, 1A, MDC1A, Muscular Dystrophy, Congenital Merosin-Deficient 
An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the LAMA2 gene. It is characterized by severe hypotonia, muscle… (More)
National Institutes of Health

Papers overview

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2014
2014
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a severe and fatal muscle-wasting disease with no cure. MDC1A… (More)
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Highly Cited
2007
Highly Cited
2007
Mutations in the human laminin alpha2 (LAMA2) gene result in the most common form of congenital muscular dystrophy (MDC1A). There… (More)
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2002
2002
The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all… (More)
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2001
Highly Cited
2001
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with… (More)
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1999
1999
Children with merosin-deficient congenital muscular dystrophy (CMD) have striking white matter changes on T-2 weighted brain… (More)
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1998
Highly Cited
1998
Humans and mice with deficiency of the alpha2 subunit of the basement membrane protein laminin-2/merosin suffer from merosin… (More)
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1997
1997
Merosin-deficient congenital muscular dystrophy (CMD) is an autosomal recessive condition usually with onset at birth or within… (More)
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1997
1997
Prenatal diagnosis was carried out in five merosin-deficient congenital muscular dystrophy (CMD) families. We studied both… (More)
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Highly Cited
1995
Highly Cited
1995
Congenital muscular dystrophies (CMDs), are heterogeneous autosomal recessive disorders. Their severe manifestations consist of… (More)
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Highly Cited
1994
Highly Cited
1994
Congenital muscular dystrophies (CMD) are autosomal recessive, heterogeneous disorders. The commonest forms are the Fukuyama CMD… (More)
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