Condition: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)


rs121909088 in DNM2 gene and CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) PMID 19623537 2009 Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

PMID 15731758 2005 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

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.

PMID 25501959 2015 Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.

PMID 22096584 2011 Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

PMID 22369075 2012 A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.

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

PMID 27343996 2016 Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.

PMID 20858595 2010 A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

PMID 21762456 2011 Common membrane trafficking defects of disease-associated dynamin 2 mutations.

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

PMID 23338057 2013 Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.

PMID 17008356 2006 A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

PMID 25957634 2015 Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

PMID 24465259 2014 Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.

PMID 25262827 2014 N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

PMID 26199319 2015 Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.

PMID 19130742 2009 Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.

PMID 21221624 2011 Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.

PMID 20927630 2011 Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

PMID 23394783 2013 Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.

PMID 26273216 2015 DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.

PMID 18560793 2008 Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.

PMID 17636067 2007 Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.

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

PMID 24135484 2014 The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish.

PMID 20700106 2010 Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.

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

PMID 26842864 2016 Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.

PMID 26908122 2016 DNM2 mutations in Chinese Han patients with centronuclear myopathy.