Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2015
2015
Update to: European Journal of Human Genetics (2012) 20; doi:10.1038/ejhg.2012.70; published online 18 April 2012 
Is this relevant?
2012
2012
Genetic and phenotypic parameters were estimated for production and disease traits (including dagginess) from about 2 million… Expand
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is clinically characterized by muscle weakness… Expand
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
2007
2007
El feocromocitoma es un tumor de células cromafines cuya raíz embriológica es el tejido de la cresta neural. Los productos de… Expand
Is this relevant?
2001
2001
Nemaline myopathy is clinically and genetically heterogeneous. The most common autosomal recessive form affecting infants (NEM2… Expand
Is this relevant?
1997
1997
A locus for autosomal recessive nemaline myopathy (NEM2) has been assigned by linkage analysis to a 13-cM region between the… Expand
Is this relevant?
1995
1995
Clinical genetic evidence suggests the existence of an autosomal recessive form of congenital nemaline myopathy in addition to… Expand
Is this relevant?
1995
1995
Changes in the molecular types of connectin and nebulin during development of chicken breast and leg muscles were determined by… Expand
Is this relevant?
1989
1989
Two cell cultures, NEP2 and NEM2, isolated from human foetal brain have been maintained through several passages and found to… Expand
Is this relevant?