×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
BEFREE
Autosomal-dominant centronuclear myopathy-1 (CNM1 ) results from mutations in the dynamin 2 gene (DNM2 ) and accounts for approximately 50 % of all CNM cases.
26908122
2016
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
CausalMutation
disease
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
Biomarker
disease
GENOMICS_ENGLAND
The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy.
25492887
2015
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
Biomarker
disease
GENOMICS_ENGLAND
Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves.
23813975
2013
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
UNIPROT
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
22396310
2012
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
Biomarker
disease
GENOMICS_ENGLAND
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
22396310
2012
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
CausalMutation
disease
CLINVAR
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.
22096584
2011
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
CausalMutation
disease
CLINVAR
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
20227276
2010
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
CausalMutation
disease
CLINVAR
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
20858595
2010
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
UNIPROT
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
20227276
2010
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
UNIPROT
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.
19932620
2010
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
CausalMutation
disease
CLINVAR
Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.
20529869
2010
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
UNIPROT
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.
19932619
2010
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
UNIPROT
A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.
19122038
2009
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
UNIPROT
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
19623537
2009
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
Biomarker
disease
GENOMICS_ENGLAND
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
17932957
2007
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
Biomarker
disease
CTD_human
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
17376685
2007
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
UNIPROT
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
17825552
2007
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
UNIPROT
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
17932957
2007
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
Biomarker
disease
GENOMICS_ENGLAND
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
15731758
2005
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
CausalMutation
disease
CLINVAR
Mutations in dynamin 2 cause dominant centronuclear myopathy.
16227997
2005
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
UNIPROT
Mutations in dynamin 2 cause dominant centronuclear myopathy.
16227997
2005
×
Entrez Id:
1785
Gene Symbol:
DNM2
DNM2
0.710
GeneticVariation
disease
CLINVAR