Condition: Myopathy, Centronuclear, 1


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.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

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

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

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

rs121434509 in MTMR14 gene and Myopathy, Centronuclear, 1 PMID 17008356 2006 A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.