Condition: Nemaline Myopathy 2
rs1057516758 in
NEB gene and
Nemaline Myopathy 2
PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.
PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 26578207 2015 Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
PMID 24725366 2014 Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
PMID 25110572 2014 Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.
PMID 26197980 2016 A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.
PMID 25205148 2015 Potential toxicity of pesticides in freshwater environments: passive sampling, exposure and impacts on biofilms: the PoToMAC project.
PMID 26841830 2016 New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
PMID 26403434 2015 "Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related ""core-rod"" congenital myopathy."
PMID 22367672 2012 Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.
PMID 27933661 2017 Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
PMID 25079567 2014 Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.
PMID 23572184 2013 Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
PMID 21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.
PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
rs1257495033 in
NEB;RIF1 gene and
Nemaline Myopathy 2
PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.
PMID 27357428 2016 Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
PMID 26809612 2016 One in seven colorectal cancer patients is under 50, US study shows.
PMID 26403434 2015 "Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related ""core-rod"" congenital myopathy."
PMID 19805734 2009 Core-rod myopathy caused by mutations in the nebulin gene.
PMID 12207938 2002 Nebulin mutations in autosomal recessive nemaline myopathy: an update.
PMID 22941678 2012 Expression of multiple nebulin isoforms in human skeletal muscle and brain.
PMID 24725366 2014 Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 26809617 2016 Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
rs112610938 in
RIF1;NEB gene and
Nemaline Myopathy 2
PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.
PMID 24725366 2014 Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 22941678 2012 Expression of multiple nebulin isoforms in human skeletal muscle and brain.
PMID 28132693 2017 Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
PMID 24056153 2015 Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.
PMID 26197980 2016 A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
PMID 12207938 2002 Nebulin mutations in autosomal recessive nemaline myopathy: an update.
PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.
PMID 27105866 2016 New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.