Nemaline Myopathy 2

Known as: NEM2, Nemaline myopathy caused by mutation in the nebulin gene 
An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle… (More)
National Institutes of Health

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2018
2018
Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon… (More)
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2015
2015
Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed… (More)
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2015
2015
1.3 Name of the analysed genes or DNA/chromosome segments Slow muscle α-tropomyosin (TPM3) NEM1. Nebulin (NEB) NEM2. Skeletal… (More)
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2012
2012
Genetic and phenotypic parameters were estimated for production and disease traits (including dagginess) from about 2 million… (More)
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2010
2010
Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is clinically characterized by muscle weakness… (More)
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2007
2007
El feocromocitoma es un tumor de células cromafines cuya raíz embriológica es el tejido de la cresta neural. Los productos de… (More)
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2001
2001
Nemaline myopathy is clinically and genetically heterogeneous. The most common autosomal recessive form affecting infants (NEM2… (More)
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1997
1997
A locus for autosomal recessive nemaline myopathy (NEM2) has been assigned by linkage analysis to a 13-cM region between the… (More)
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1995
1995
Clinical genetic evidence suggests the existence of an autosomal recessive form of congenital nemaline myopathy in addition to… (More)
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1989
1989
Two cell cultures, NEP2 and NEM2, isolated from human foetal brain have been maintained through several passages and found to… (More)
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