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ALLMedicine™ Autosomal Recessive Centronuclear Myopathy Center

Research & Reviews  3 results

Centronuclear myopathy
https://rarediseases.info.nih.gov/diseases/101/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
https://rarediseases.info.nih.gov/diseases/12718/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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675003
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 ...

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