Variant: rs121909089 

    present in Gene: DNM2
    present in Chromosome: 19
    Position on Chromosome: 10793833
    Alleles of this Variant: G/A;T

rs121909089 in DNM2 gene and CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) PMID 28676641 2017 Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

PMID 16227997 2005 Mutations in dynamin 2 cause dominant centronuclear myopathy.

PMID 20529869 2010 Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.

PMID 20817456 2010 Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.

PMID 24016602 2014 A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells.

PMID 25492887 2015 The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy.

PMID 22613877 2012 Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

rs121909089 in DNM2 gene and Myopathy, Centronuclear, 1 PMID 19932620 2010 Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

PMID 19623537 2009 Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

PMID 19932619 2010 Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

PMID 17932957 2007 Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

PMID 16227997 2005 Mutations in dynamin 2 cause dominant centronuclear myopathy.

PMID 20227276 2010 Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

PMID 22617344 2012 Clinical utility gene card for: Centronuclear and myotubular myopathies.

PMID 17825552 2007 Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

PMID 22396310 2012 Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

PMID 19122038 2009 A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.