Condition: Myopathy, Centronuclear, Autosomal Recessive


rs121909273 in BIN1 gene and Myopathy, Centronuclear, Autosomal Recessive PMID 17676042 2007 Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

PMID 20142620 2010 Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.

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

PMID 29950440 2018 A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

PMID 24755653 2014 Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization.

PMID 24549043 2014 Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.