About 8 results

ALLMedicine™ Autosomal Recessive Centronuclear Myopathy Center

Research & Reviews  3 results

Centronuclear myopathy

Aug 7th, 2015 - Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Ce...

Autosomal recessive centronuclear myopathy

Aug 6th, 2015 - Autosomal recessive centronuclear myopathy (AR-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AR-CNM, specifically, affected people generally begin showing signs and symptoms du...

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progre...
PLoS Genetics; Böhm J, Vasli N et. al.

Jun 12th, 2013 - Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...

see more →