Skip to search formSkip to main contentSkip to account menu

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… 
National Institutes of Health

Related topics

Related topics

14 relations
Autosomal recessive inheritanceBulbar weaknessByzanthine arch palateConnective and Soft Tissue

Broader (1)

Myopathies, Nemaline

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon… 
2015
2015
Clinical utility gene card for: Nemaline myopathy – update 2015
Update to: European Journal of Human Genetics (2012) 20; doi:10.1038/ejhg.2012.70; published online 18 April 2012 
Review
2015
Review
2015
Nemaline Myopathy Type 2 (NEM2)
Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed… 
2012
2012
Genetic parameters for production traits in New Zealand dual-purpose sheep, with an emphasis on dagginess.
Genetic and phenotypic parameters were estimated for production and disease traits (including dagginess) from about 2 million… 
Highly Cited
2010
Highly Cited
2010
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).
2007
2007
Feocromocitoma. Presentación de un caso y revisión de la literatura
El feocromocitoma es un tumor de células cromafines cuya raíz embriológica es el tejido de la cresta neural. Los productos de… 
1997
1997
Refined Localisation of the Genes for Nebulin and Titin on Chromosome 2q Allows the Assignment of Nebulin as a Candidate Gene for Autosomal Recessive Nemaline Myopathy
A locus for autosomal recessive nemaline myopathy (NEM2) has been assigned by linkage analysis to a 13-cM region between the… 
1995
1995
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis
1995
1995
Changes in the molecular types of connectin and nebulin during development of chicken skeletal muscle.
1989
1989
Regulation of Cyclic AMP Formation in Cultures of Human Foetal Astrocytes by β2‐Adrenergic and Adenosine Receptors
Two cell cultures, NEP2 and NEM2, isolated from human foetal brain have been maintained through several passages and found to… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)